The Influences of Alleles and Environment on Education

Some of the most interesting research combines approaches from different fields of study to explain certain phenomena.  In July, a study relating academic achievement to genetics was published in the Developmental Psychology Journal from the American Psychological Association.  Researchers at Florida State University were trying to see if certain genes would influence whether or not a student would graduate from high school and attend college.  The researchers studied the DAT1, DRD2, and DRD4 genes.  The DAT1 gene encodes a protein that acts as a dopamine neurotransmitter.  The DRD2 and the DRD4 genes encode proteins that acts as dopamine receptors.  Dopamine is an important chemical found in the brain that may have an effect on certain behaviors such as motivation, sleep, violence, and cognitive ability.  Improper dopamine levels may cause the development of certain conditions such as ADHD.

[caption id="" align="aligncenter" width="504" caption="Dopamine attaching to receptors."][/caption]

This study used data from the National Longitudinal Study of Adolescent Health (Add Health).  In 1995, Add Health began studying youths in middle school or high school through early adulthood (the study ended in 2008).  The participants’ DAT1, DRD2, and DRD4 genes were analyzed.  Each participant contained different alleles of the genes being studied.  An allele is the alternative form of the same gene.  The researchers found that test subjects with certain alleles obtained the highest levels of education.  However, having certain alleles does not guarantee graduation from college.  The environment (ie. financial status and prevalence of crime) plays a major factor in determining the level of education.

As a college student, it was interesting to learn that certain alleles may influence academic achievement.  Although there is not a gene for “getting good grades,” certain key aspects of learning such as motivation and attention are clearly controlled by the genes that regulate the levels of dopamine in the brain.  To benefit future students, more studies should be completed to learn about other genes that may affect learning and levels of academic achievement.

 

The Diet of Pregnant Mice Changes the Expression of Genes in Offspring

The Food and Drug Administration (FDA) discourages women who are pregnant from consuming alcohol and smoking due to a detrimental impact on the health of her child.  Further research is being published that may also discourage the consumption of certain types of foods  A recent article published in September shows that a mother’s nutrition may have an effect on her child’s genes.  Scientists at the University of North Carolina have been exploring this idea by feeding female laboratory mice different diets and examining the changes in their offspring’s DNA.

This type of research falls under the category of epigenetics.  Epigenetics involves altering the function of a gene without changing the sequence of DNA.  In this study, female mice were split into two groups before gestation.  One group of mice was fed a control diet, and the other was fed a diet lacking alpha-linolenic acid (ALA).  ALA is an Omega-3 fatty acid that is commonly found in seeds such as walnuts and pecans.  Both groups of females were mated with male mice that were fed the control diet.  The pups that were born from the divided groups of mothers were also divided in half.  One group of pups were fed a flaxseed oil supplement with high amounts of ALA, and the other group was fed a normal diet.  The scientists then analyzed the polyunsaturated fatty acid (PUFA) content of the offspring’s blood and liver.  The mice that were given the flaxseed supplement showed an increase in the DNA methylation (controls gene expression) of the Fads2 gene.  This gene is responsible for controlling the PUFA present in metabolism.  However, it was also found that the level of DNA methylation was also tied to the mother’s DNA methylation which was controlled by her diet.

[caption id="" align="aligncenter" width="400" caption="Flaxseeds contain a high amount of ALA."][/caption]

The results of this study show that the diet of a female mouse can control the epigenetics of her offspring.  Further studies should be completed to see if these results are applicable to humans.  It may be found that a mother’s diet can have an advantageous or disadvantageous effect on her offspring.  If true, mothers should eat the best possible diet to insure the health of their offspring.

 

Laser Spotlight Reveals Machine ‘Climbing’ DNA

This article detailed current research in which revolutionary imaging technology revealed new mechanisms of “molecular machines” which served to transform genetic material through a ‘climbing’ method.  This new imaging technology works by utilizing laser lights to “generate very bright patches close to single cells.” The power of this imaging with technology is even more potent when combined with fluorescent tags which permit experts to observe the internal working of cells. Interestingly enough this technology allows experts to see in real time how “molecular machines” change the shape, size, and composition in the presence of DNA. Mark Leake  of Oxford University’s Department of Physics and David Sherratt of Oxford University’s Department of Biochemistry have collaborated on the project and the “molecular machine” in question were Structural Maintenance of Chromosome (SMC) complexes. SMC serves to transform genetic material within all living cells, and work across various vital mechanistic functions, such as permitting the contraction of muscles. To this point, technology has not been fast or precise enough for experts to observe the mechanistic tendencies of these molecules. Though now with this technology, experts have found that, as put by Leake, “'each machine functions in much the same way as rock-climber clinging to a cliff face.” Leake expanded on this thought, stating that the opening/closing action of the machine is truly a newfound process of mechanical “grabbing.” Leake and other experts remain optimistic as to how such advanced and revolutionary imaging technologies may permit examination and more complete understanding of the most vital biological processes within human systems.



After viewing the documentary on Rosalind Franklin and appreciating how revolutionary x-ray diffraction was in the determination of the structure of DNA, I am excited to see what this new type of imaging technology will bring to the current scientific field. Already experts have discussed its possible application of observing the mechanism of many of diseases currently plaguing humans. Through observation and examination of such diseases, it is very possible that experts will be able to devise a new way to combat, or even prevent, diseases afflicting countless individuals today. At its very essentials, I am excited for the wealth of knowledge and understanding that such powerful imaging technology will provide experts.

Fruit Flies Provide Insight into Natural Selection

According to Science Daily, a research team headed by University of California, Davis professor Charles H. Langley has documented evidence of natural selection in fruit flies, also known as Drosophila melanogaster. Like humans, fruit flies originated in Africa tens of thousands of years ago. Similarly, while genetically diverse populations of fruit flies still exist in Africa, many distinct lines of fruit flies now exist in every part of the world. Some fruit flies have evolved to adapt to certain specialized environments. For example, a certain strain of fruit fly makes its home near breweries. Overall, Langley’s research describes the genomes of over 200 strains of D. melanogaster.

D. melanogaster is a model organism that is often used to study genetics. Because fruit flies produce many offspring and go through many generations in a short amount of time, these tiny insects are often used for genetic research. Langley and his colleagues hoped that their work on D. melanogaster would be used as a precursor to studying natural selection and genetic variation in humans. Langley’s team is not the first one who proposed using D. melanogaster to learn about human evolution; other scientists have chosen the same path in the past.

What is most interesting about Langley’s research is that the mixing of D. melanogaster populations mirrors the mixing of human populations in the world. Due to globalization and advances in technology, human beings are more mobile than before. Many people have chosen to settle in places that are far away from the lands of their grandparents. Likewise, technology and globalism has allowed – unintentionally, of course – European fruit flies to travel to Africa and meet their distant cousins. Perhaps further study on the genetic variation and natural selection of fruit flies will give hints about the history of the human race.

Genetically Engineered Mice May Be Able to Detect Landmines

The mouse, a common sight in many biology laboratories, may help make the world a little bit safer.  Scientists at the Hunter College of the City University of New York have been working on breeding mice that can detect hidden landmines.  There are millions of hidden landmines scattered throughout the world, and current removal techniques are inefficient.  Prior to the research done at Hunter College, an organization in Belgium called APOPO has been training African pouched rats to detect landmines through scent.  The program has worked well, but training the rats takes several months and is cost prohibitive.



The scientists at Hunter College have been working to genetically engineer mice to make them extremely sensitive to TNT, a compound commonly found in mines.  The Food and Drug Administration defines genetic engineering as, “... a process in which recombinant DNA (rDNA) technology is used to introduce desirable traits into organisms.”  The mice were genetically modified to contain 10,000 to 1,000,000 odor-sensing neurons that can detect TNT.  This is a vast improvement over the typical 4,000 neurons found in a regular mouse.  Danny Dhanasekaran, a biologist at the University of Oklahoma, discovered that mice can detect TNT through the 2,4-dinitrotoluene-responsive receptor.  A recent study shows that mice can undergo seizures due to extremely strong scents.  It is hoped that the genetically engineered mice will go through an involuntary seizure to show the presence of a landmine.  This is currently being tested.  If successful, mice would not need expensive and lengthly training required to detect mines.

I found the research described in this article to be incredibly informative and innovative.  The scientists at Hunter College were able to use previous research conducted on mice scent receptors and behavior for a real life application.  The research highlights the benefits that can be had from genetically engineered organisms.  If the mice are successful in the field, they will have the ability to make certain parts of the world safer and alleviate human suffering.

 

Scientist Deepen Genetic Understanding of Multiple Sclerosis

  

Scientist have discovered 30 percent of our likelihood of developing Multiple Sclerosis (MS). This is explained by 475,806 genetic variants in our genome. Genome-wide Association Studies (GWAS) are looking for genetic links to this disease. Multiple Sclerosis (MS) is a inflammatory disease of the central nervous system, and the most common neurological disorder in young adults. Canada has one of the highest ratings for MS. Corey Watson at University Doctoral Graduate in Biology compared MS patients with non MS patients and found that 8 percent of our 30 percent genetic susceptibility to MS is linked to small DNA variations on chromosome 6.  MHC encodes proteins that facilitate communication between certain cells in the immune system. Reserachers at the Mount Sinai School of Medicine in New York,  are looking for additional causes of MS to be found in genes that have varients that are rare to find in the population. These varients are poorly represented by their genetic markers.

I think this is very unfortunate for young adults that have this disease. The inflammation occurs when the body's own immune cell attack the nervous system and researchers are having a hard time finding a cure because they do not know whether this is genetic or a virus that is causing this disease. All researchers have found is therapies to help slow down the disease but even then adults do not feel like their normal selves.  As of right now there is no known life expectancy and people with MS can still function at work. Hopefully soon researchers will be able to tell whether this disease is genetic or viral.

Key Gene Function Against Cell Death Discovered

  

Researchers at MedUni Vienna's Institute of Medical Genetics discovered two genes (TSC/Tuberin and PRAS40) are extremely important regulators in the development of stem cells. If these genes are switched off, the stem cells will not develop and instead die a programmed cell death. The leader Markus Hengstschager, Director of Institute of Medical Genetics published a journal in Human Molecular Genetics that these stem cells need both proteins to develop and be involved in regeneration and differentiation processes in cell death. The human body maintains a stable equilibrium between cell death and the breakdown of tissue and the regeneration of tissues in stem cells. Stems cells are also rebuilding tissues in your skin, muscle, or nerve cells. A human cell can live up to two days. Skin cells live up to four weeks. A lung cell dies around 80 days, and red blood cells die within 120 days. These two poteins are highly essential to make these tissues for the cells, and cannot regenrate without it.

This is fasinating and scary. This shows how every protein, cell, or whatever is needed to make the body function to produce the tissues needed in your body. It is crazy that if something is taken away from the ingredients to produce a tissue nothing will be made, and what is even crazier instead of regenrating it will degenrate it and will cause death within the cell! Researchers need to create some sort of pill to help regenrate the absent of proteins. what if your body is just uncapable of producing those proteins?

Scientist Use Worms to Unearth Cancer Drug Targets

Scientist in Wyoming are doing experiments involving small nematodes worms. They are discovering several genes that may be potential targerts for drug development against cancer. Researchers hypothesize the inhibting these genes could reverse cetain traits associated with cancer. Dr. David Fay (Ph.D) in the Molecular Biology Department says that cancer is the leadiong cause of death worldwide. The plan of this gene is to cure or treat many types of cancer. The gene is called LIN-35 (in worms) that is a strain found in nematode worms that carried a mutational gene that is similar to the one inactivited in humans. In humans the gene is called pRb and this gene is to control tumor progression including cancer cell growth and survival.  Mark Johnston Ph.D and Chief Editor in Genetics says this research is so important to shut down genetic machinary that contributes to cancer growth and progression.

I think that this would be awesome if they could find a cure for cancer by using worms. Worms are cheap, and having a quick generation cycle if more worms were needed to produce the gene into medicine. Hopefully since this would be lower in cost efficent that once realeased on the market, the product won't be ridiculously expensive.

Gene Mutation Cause No Fingerprints

Fingerprints are rigid pattern on a tip of the finger. Everybody has unique fingerprints. Two identical twins could share their DNA; nevertheless, we won’t find a person with similar fingerprints. New studied reveal By American Journal of Human Genetics that person born without fingerprints those diseases called “Adermatoglyphia”. This Adermatoglyphia is very rare gene mutation of skin disorders. Lately, research entitled this mutation “immigration delay disease”, because without fingerprint it hard to enter different countries.

Generally in the womb, fetus begins to progress fingerprints after 24 weeks of gestation that patterns called dermatoglyphs which persist throughout life. Though researchers are uncertain that when mutation occur in one particular gene which allows in some people to skip the processes of forming fingerprints during development. Researchers study on Swiss family who are affected by Adermatoglyphia.  After doing genetic analysis of family’s member, nine members don’t have fingerprints. Comparisons between affect and unaffected member, researcher found mutation in gene called “SMARCAD1” causes the Adermatoglyphia. SAMRCAD1 is encoded by protein, affected person have very short version expressed in the skin and they lack fingerprints. Hence, affect person also produced less number of sweat glands, say researchers.

 

 I am concern about people who doesn’t have fingerprint, because they have really hard time grabbing anything or holding a cup of glass. It would be terrifying for those people without fingerprints. It can cause lot of difficultly when they want to move to different countries.

Genetics May Help Explain Placebo Effect, Researchers Say

The placebo effect is when a patient is given a treatment that they believe will help their condition, however the actually treatment has not really been proven to work (Freeman 2012). According to researchers, a patient's response to a placebo is based largely on genetics. In a trial dealing with irritable bowel syndrome, patients were given what they believed to be acupuncture treatment. One group received no treatment at all, a second group received fake acupuncture with little or no face to face contact with the specialist, and a third group received the same fake acupuncture, but was given more interaction with the acupunturist.



What was found was that patients containing two copies of the allele methionine showed a positive response to the placebo. Patients with two copies of the valine allele were less likely to response to the placebo. Interestingly, even the patients who contained the two alleles of methionine responded better to the fake acupuncture when they had more interaction with the caregiver. This suggests that personal interaction may have something to do with the response.

I would like to read more about the genetic relationship that the placebo effect has when used in the treatment of a different syndrome. I am skeptical because irritable bowel syndrome has been shown to be anxiety related, therefore the results could have been due to the patient feeling more relaxed about having received a treatment, or about speaking to a physician. The results may be different if the patients were instead complaining of arthritis, or something else musculoskeletal.

Freeman S. How the placebo effect works. 2012. [Internet.] http://health.howstuffworks.com/medicine/medication/placebo-effect.htm

Arctic: Sea ice no barrier to bowhead whales mating, study suggests

There has been a significant amount of talk over the past several years regarding global warming and the melting of arctic pack ice. Bowhead whales of the Pacific and the Arctic were thought to be separated by the pack ice. When scientists looked at the genetics of each population, it was shown that they were closely related. Scientists were concerned that the loss of pack ice may have lessened the diversity among bowhead whale populations. In order to determine if this were true, the genetics of ancient bowhead whales was compared to the genetics of modern bowhead whales. It was found that ancient bowhead whales also showed the same relatedness. In fact, it seems that they may all be part of the same family. Researchers theorize that whaling may have made a large enough impact on bowhead whale populations to limit the gene pool.



It is unfortunate that whaling could have made such a significant impact on bowhead whales. What is worse is that some native villages in Alaska are still allowed to hunt for them. Subsistence is completely understandable, however, when it comes to situations like these and endangered species, rules and regulations need to be more strict. Furthermore, it is inevitable that this article will fuel those who believe global warming to be a farse, and may use it as evidence to prove that melting pack ice may not be as terrible as some believe it to be.

Type 2 Diabetes Revealed By Gut Bacteria

This article details the findings of both the University of Copenhagen in Denmark and the Beijing Genetics Institute (BGI) of China in that though the study of “metagenomics” that results have displayed numerous ways in which gut bacteria in a person afflicted by type 2 diabetes are significantly discrete in comparison to individuals without the disease. Metagenomics is defined as the examination of DNA patterns within colonies instead of within individual organisms. It should be noted that the presence of these identified gut bacteria do not necessary mean that the bacteria are the cause of the disease itself, they merely note the presence of the disease. However, Danish researchers are examining this issue by injected healthy mice with these type 2 diabetes gut bacteria and examining the results. Experts note the shocking increase in diagnosis of individuals with type 2 diabetes, and believe that the numbers are even higher, masked by the fact that so many individuals do not even know that they are living with the disease.

The information that this research provides, even if it is found that the bacteria do not cause the disease, will have a resounding effect of the medical world. Having the ability to test and find if the individual has diabetes so much earlier would permit patients to more quickly react and change their lifestyle to prevent future heath repercussions. Even more so along this path, if additional research finds that these bacteria are indeed the cause of type 2 diabetes, I cannot  imagine how beneficial, though of course optimistically many years in the future, a medication or treatment would be that could eliminate or reduce the impact of such bacteria in afflicted individuals. I know many family members and friends who struggle with type 2 diabetes and can see how powerful such a discovery, and potential treatment, could be in their lives, not to mention for the thousands of other afflicted individuals worldwide.

Gene Mutation Changed Cheetah’s Spots to Stripes

This article detailed current research about how U.S. researchers in sub-Saharan Africa have determined the biological mechanism for stripes in the coat of both tabby cats as well as the cheetah’s “normally spotted coat.” Interestingly enough, feral cats found in northern California played an essential role in the study. The study revealed that it was a specific biological pathway that, when affected by a certain mutation, caused the gene caused stripes to become blotches as well as spots to become stripes. In the past, the differences between the striped and spotted cheetahs (which are evident in cats as well) were so significant that biologist had believed that they belong to two distinct species altogether. Even despite this discovery, experts still pose the question of how relatively little is known of the, “biological explanation for cheetah spots or the stripes on tigers, zebras or even the ordinary house cat.”

I thought that this article was extremely interesting, especially with how long humans have been exposed to the species of cheetahs and cats and how little are still known about these animals. I also had some questions about which coat pattern, if any, would provide the greater level of biological fitness, and how these gene mutation could then be beneficial or detrimental to the affected individual. If a certain mutation causes a specific coat pattern to present a greater level of biological fitness, perhaps in the future we may only see striped cheetahs, and spotted cheetahs may be a rare sight. It is exciting, and also frightening how little is still known about the genome of humans and the other organism we interact with daily. I was also interested in how soon it would be before humans could manipulate this gene in cheetahs and if such research would lead to applications in other organisms or even humans.

Gene Therapy as a Cure for Fatal Bone Diseases in Children?

This article detailed current research about how, although low bone density and osteoporosis is quite prevalent in the public eye, that excessive bone density and subsequent diseases also present a significant medical challenge. The article reported that such diseases of excessive bone density, such as malignant infantile osteopetrosis, or MIOP, are only currently treated with a risky transplant procedure, but research has shown that gene therapy might provide a safe and effective alternative. This therapy would allow experts to extract stem cells from the patients themselves, eliminating any external donor, and have the non-functioning gene replaced with a working copy, and then reinserted into the patient. Researchers note that the method is not risk-free, and that much work is still required before the technique is ready for practical application.

The article and the research it entails were intriguing in that they display great promise in aiding children suffering from such diseases as malignant infantile osteopetrosis (MIOP). I enjoyed the fact that experts discuss the possibility that once such gene therapy, which does not require external stem cell donors (a fact that I thought would limit the critics of such therapy), is proven successful at treating MIOP, there are several other similarly related ostepetrosis diseases which could also be treated with such therapy. I thought this was interesting due to the fact that much controversy surrounds stem cell research as violating certain natural rights by extracting external stem cells, however in this case, no external stem cell donors would be required. Though this is quite notably early in the development and implementation of such research, I look forward to the results of studies and their practical implementation into alleviating and treating such diseases in the near future.

Science Can Make Us as Fast as Usain Bolt

This article details the findings of the Encode consortium, made up of 442 researchers working in 32 institutes internationally, who have dedicated themselves to researching a, “representative 1% of our genome.” Though it was commonly believed that only 2% of DNA codes for conventional genes and the remaining 98% of the DNA was relatively unimportant, ENCODE research has shown that this “unimportant” section of the DNA is instead made up of genetic switches which instruct the cells in the body which genes must be utilized, or switched “on” or “off”, to produce a muscle, skin, or nerve cell. This discovery could have revolutionary implications on the very foundation of current understanding of such diseases as obesity, diabetes, and cancer. With the development of gene-switch medicine, though many years off in the future, medical potential may be extend past the realm of simply just curing iseases, but also isolating the differences between normal athletes and elite athletes, such as Usain Bolt, who’s only difference may lie in unique patterns of gene switching. Though practical application is notably many years in the future, image the possibilities within the medical field with such information.

As an athlete, I think that it is remarkable that, speaking plainly, the only difference between world-class elite athletes and regular athletes could perhaps be a few differences in patterns of gene switching. That medication could close this gap, not only in athletics, but in diseases where these gene-switches could prove invaluable, is extremely exciting and could change the face and orientation of research in gene therapy in the near future. If such RNA-derived gene-switching medication proves applicable, the future of the pharmaceutical field, my prospective professional field, may be altered forever. The sheer potential that such research contains, could shift international medical perspectives and goals in the future, though further study is of course needed.

Don't Stress: Avoid BPA, Eat Soy

This article details the findings of North Carolina State University which reported that exposure to chemical biphenol A, or BPA, in developmental stages can result in high levels of anxiety due to the changes it induces in the amygdala region of the brain. Even more interesting is the fact that the results of the research found that soy effectively mitigates these effects. Dr. Heather Patisaul, an associate professor of biology NC State, explained how BPA was known to cause anxiety in a variety of species, however the exact mechanism by which BPA caused this anxiety was not well known. The study was conducted on a population of rats, and the results clearly displayed that the changes in gene expressions in the amygdala, a region which mediates responses to fear and stress, were a result of exposure to BPA, and that the population which was fed a soy diet had a significantly reduced stress level in comparison to the population which was fed a soy-free diet.

As one of my professors once told me, the two most tested populations are lab rats/mice and college students, so when I saw that research had been conducted on one of the possible causes of stress within a population, I was extremely intrigued. In one of my current classes, we had discussed the phytoestrogens which soy contains, and I found it interesting how it could it applied in this case. I was also quite worried with the amount of BPAs that the article noted were contained in consumer food containers, and if additional research would reveal if, and how, inclusion of BPA’s in consumer products could have resulting effects on human health. I look forward to how additional research may impact how soy could now have new medical applications as well as how the impact of BPA on stress levels may cause industry to move away towards lowering concentrations of the chemical.

 

 

Fruit Flies Reaching Their Boiling Point

This article detailed current research about how many species of fruit flies lack the ability to tolerate even a modest increase in temperature. This is so worrying due to the fact that it was found that such species are close, or already beyond their “temperature safety margin,” and even more so, how such species do not the genetic aptitude to adapt to climate change. The research, conducted by researchers from Monash University, then delves into identifying the risk of extinction at the basic genetics level. This research hopes to provide the species greatest at risk in climates of greater extremes, or greater variation of heat, cold, and aridness. The current findings of the research are not optimistic about how species which evolved in more moderate environments will fare in more extreme environments, and concluded that only a very few species of the fruit fly could withstand higher temperatures, all of which were related and evolved in a more extreme relative environment. Dr. Kellerman, of the Monash University Molecular Ecology Research Group, ummated that such research would suggest that most of these species lack the gene to increase their heat resistance, essentially being “constrained by an evolutionary straitjacket.”

I thought that this article was extremely interesting, especially noting how we use Drosophila melanogaster so frequently as a model organism within genetics and other scientific experiments, and yet this information about their intolerance for temperature change  was just noted. I was also quite worried by the warning of “evolutionary straitjackets” that the article presented. What is to say that with the coming global warming, that the environment will not be so radically different that all species will not be able to adapt accordingly due to genetic limitations? Hopefully a more environmentally-conscious global perspective in combination with additional research into such genetic limitations will moderate the effect upon vulnerable species.

Ancient DNA Research Revolutionizes Scientists’ Understanding of Extinct Animals

This article detailed current research which has the potential to shatter the very foundation of scientists’ current understanding of extinct animals. Such current understanding of ancient animals has, for centuries, been based upon reconstruction of skeletons of fossilized bones and teeth. Thus, through this work, scientists were able to discover much about the “physical characteristics” of these ancient animals, however next to nothing is known about the actual “physiological processes” that sustained them. By this new biotechnology, experts are able to decode ancient genes and reproduce proteins that the genes code for, delving deeper into the physiology of these extinct animals. This field of “paleophysiology” is brimming with potential, however true strides are notably several years off. It should be noted that the process of cloning in “Jurassic Park-esqe” methods is far out of reach, however such research is continuing to discover invaluable information about the physiology of the organisms of the ancient world.

I really enjoyed this article, but as I was reading it, I could not help but to have flashbacks of the iconic Jurassic Park movies and novels. Though I am sure necessary precautions would be taken while working with such technology, it is inevitable that some undesirable repercussion might come of working with this technology. I also question the ethical code which binds experts working in this field, what, if any, limitations would need to be put upon such exploitation? I also questioned how long it would be until such experimentation with extinct proteins would have an adverse effect on some aspect of the modern world.

Eye Color May Indicate Risk for Serious Skin Conditions

         

Eye color may be an indicator of whether a person is high risk for certain skin diseases. At University of Colorado School of Medicine, a study has shown that people with blue eyes are likely to have vitiligo, an autoimuune skin disease causes pigment loss of irregular white patches of skin and the hair. People with brown eyes are less likey to have melanoma, which is a dangerous kind of skin cancer. In the Journal of Natural Genetics, researchers look at non-Hispanic European ancestry, 3,000 new genes predispose for vitiligo. 27 percent had blue/gray eyes, 43 percent had tan/brown eyes, and  30 percent had green/hazel eyes. Americans non-Hispanican European ancestry had 52 percent blue/gray eyes, 27 percen tan/brown eyes, and 22 percent green/haxel eyes. Richard Spritiz M.D. of Human Medical Genetics said vitiligo and melanoma are polar opposite.  Some of the same genetic variations make one more likely to have vitiligo, and less likely to have melanoma or vice versa. Vitiligo disease attacks the normal pigment cells, but by over activity by one's immune system searches out and destroys early cancerous melanoma cells. People with vitiligo are at a higher risk of having thyroid disease, type 1 diabetes, arthritis, and lupus. Dr. Spritz says there must be some genes that push towards autoimmune diseases, which other genes are enviromental triggers determine which autoimmune disease occurs and when.

I think that this is interesting how by a certain eye color a person is more likely to be prone to a certain disease. I am curious on how researchers can detect this but have not came up with a solution to help prevent this.

Can Gene Therapy Cure Fatal Diseases in Children?

    

Malignant infantile osteopetrosis(MIOP) is a rare disease and in Sweden a child is born with MIOP one every three years, and world wide is one and every 300,000 births. Low bone density causes osteoporosis, but extremly high bone density is also harmful. High bone density is a rare, hereditary disease which can lead to children's death by age five. Researchers at Lund University in Sweden are now trying to delveop gene therapy against this disease. For the body to function there needs to be a balance between the cells that build up in the bones and the cells that break them down.  MIOP, the cells break down the bone tissue do not function as they are suppose to causing the bone to have sufficient cavities for bone-marrow and nerves. Optic and auditory nerves are compressed and can cause blindness and deafness in children. If the bone marrow cease to functions, without treatment, the child could die of anemia and infections. Researchers are focuses on finding alternatives for treatments against MIOP, a bone-marrow transplant. This transplant is effective but can be risky and dependent on finding a suitable donor. Gene therapy requires no donor, stem cells are taken from the patients themselves. Once the cell's non functioning gene has been replaced with a healthy copy, the stem cells are placed back into the child. This method is used today for a blood disorder called thalassemia. Since it is impossible to tell control where the genes will end up this could cause leukemia. Gene therapy is only used for serious diseases because of the high risks. Lund researchers are trying to conduct this on plant cells and laboratory animals.

This is unfortante that children that have this conditon will be lucky if they reach age five. Although, researchers are trying to use gene therapy to try to replace the stems cells with their own healthy cells. This must be a diffucult decisions for parents to make wanting to help their child not suffer from opsteopetrosis but by using the gene therapy method could cause leukemia and now having another problem on their hands. I think reaserchers should come up with a safer procedure but since there is no cure for the diease  besides possibly waiting on the donor list, I would still try the gene therapy procedure.

How An Antibody Helps The Immune System Reject Cancer

The human immune systems destroys the cancer cells in your body. Cancer vaccines, such as influenza or other diseases, help the immune system recongize proteins found on the surface of cancer cells. However, the immune system rarely can detect the vaccine, and this is why other stimulating anti-cancer immunity are needed. Researchers at Fox Chase Center have shown that an engineer antibody called DTA-1 led rejection of 50 to 60 percent of tumors in a mouse melanoma. The antibodies allow the immune system to over come its natural reluctance to attack the tumor cells. Despite the cancer vaccine, the vaccine alone is not enough to generate an effective immune response, a large part of it is because of the cancer. DTA-1 is used to repair regulatory T-cells, which is waking the immune system prescence of a cancer. Dr. Cohen from Fox Chase Center presented this at the American Association for Cancer Research in Denver, Colorado. DTA-1 is an antibody that stimulates glucocorticoid-induce tumor necrosis factor receptor (GITR), a protein that are on T-cells, including regulatory T-cells that supress immune function and effector T-cells that help carry out an immune response. DTA-1 was created by Dr. Shimon Sakaguchi at the Institute for Frontier Medical Science in Kyoto, Japan.  Studies have shown that that DTA-1 helps the immune system overcome its natural reluctance to attack tumor cells. Scientist are going to use this stragey for treating cancer.

This is interesting how researchers can change how the body's immune system is set-up.  Even more amazing how this could possibly save someones life. This would be really great if researchers could turn this into a vaccine and have it prevent cancer from entering the body at all.

Newly discovered Protein May Be a Cause of Heart Failure

Researchers at the Peter Munk Cardiac Centre discovered a protein switch that can trigger heart failure.  Dr. Billia says that  PINK1 is a protein that can affect the heart metabolism, leading into heart failure. The absences of this protein can cause the heart cells to produce less energy. The lack of energy causes some of the heart cells to die, forcing the remainder of the cells to work harder to keep the heart going. This is known as hypertrophy, where the heart muscles thickens. Heart failure is the most common hospitalization in North American adults, and over 50,000 people have heart failure annually. Studies have been shown that if you genetically remove the PINK1 proetin gene the heart will develop normally but will begin to fail within two months. It is not required for organ development but this protein is so important to the body; the body cannot survive without it.  Researchers think this protein links to Parkinson's disease and certain cancers such as esophageal and endometrial disease.

This is great information for cardiac patients. For heart patients that are on the donor waitlist can go on this new drug to help reverse the PINK1 protein from failing and perhaps repair their own heart and might not need to have a transplat after all and save a lot of money in the long run. I'm sure not only with gene therapy and taking certain medications to keep your proteins functioning normally diet and exercise play a factor as well to help the heart healthy. This i s great knowing that people now have alternatives and do not have to sit around waiting hoping to be next on the donor list.

Bioethics Panel Urges More Gene Privacy Protection

Gene-mapping has become an important factor in providing more useful health and medical information.  The idea of being able to detect any diseases that might affect an individual in the future can be thought of as a great thing, especially since the costs of this test have decreased, including in comparison to other single gene mutation tests.  It has been found that DNA decoding is legal in more than half the US, but there is now concern about the privacy issues that might prevail.  For example, if gene-mapping becomes common practice in a visit to the doctor's, who will be allowed to see the results, when can the test can be taken, and how will it be administered?  How long will it take for a law to pass that prohibits the sharing of genetic information from clinical studies?  Will doctors be able to warn patients about any other diseases they may have if they are only specifically checked for one?

Although a law has already been passed that prevents employers/health insurers from discriminating against genetic information, life and long-term care insurances have not been incorporated into that law.  Electronic storage of such information has not even proven to be fully secure.  These are just a few of the worries that have peaked interest in looking more into gene-mapping before it becomes a test accessible by 100% of the public population.

 

I never thought of gene mapping to be available as a regularly run test so soon.  The fact that the expense of the test has even come down surprises me because I would assume costs to remain high, if not increase once it is completely available to the public of all US states.  One concept I never thought of when it comes to privacy has to do with hereditary information.  If a person is diagnosed with an inherited disease, he/she might show results to a relative that could have it.  If the relative never wanted to know about a medical condition, that could be a violation of his/her privacy.  I was also surprised to read that a doctor could keep information private about other possible diseases a patient might have if only one specific mutation is being looked into (unless a waiver is signed).  It is a shame that there are even loopholes with something as personal as the release of one's genetic data.

Disease's in a Dish

Prior to 2006, stem cell research was an ethically challenging field of study. The only known obtainable undifferentiated cells were human embryos. To obtain a stem cell, meant aborting a life.  This all changed however when a Japanese scientist, Shinya Yamanaka discovered a new type of stem cell called the IPS or induced pluripotent stem cell. It is formed by injecting programmed genes into fibroblast skin cells.

Wendy Chung, a geneticist from NY, sampled skin from elderly women infected with ALS syndrome or Lou Gehrig's disease. Wendy then created IPS cells from the skin of the women. Using a pitri dish, she grew ALS infected motor neurons from the IPS cells! The next step is comparing the ALS motor neurons to  healthy ones in hopes of finding a cure.

This is a very exciting field of science. The discovery of IPS cells has opened endless possibilities in biology. It is interesting to think if one day they could grow entire organs outside the body using IPS cells and then transplant them.

 

 

New Studies of Rats May Help Infertile Women

Many women who are of childbearing age cannot have children for a number of reasons. In fact, 10% of sexually mature women cannot have children for one reason or another, whether it is from an injury, radiation therapy or, most commonly, polycystic ovarian syndrome. However, an article on Science Daily states that scientists have been able to recreate eggs in vitro for female rats in an attempt to treat infertility. Over time, this research may be applied to female humans who cannot produce enough eggs to become pregnant.

Many infertile women use hormone replacement therapy to maintain their sexual characteristics. However, the hormone therapy does not replace ovarian tissue function. Since egg production is a function of the ovary, eggs are not produced. The goal of the surgeons experiment was to encourage the ovaries to produce progesterone and estrogen as well as stimulate egg production. They did this by extracting ovarian cells from a female rate and isolated them in a culture of nutrient-dense growth factors for one week. Next, the cells were put into a collagen gel where they were free to grow three-dimensional, rather than on a flat plane.

What they observed early on was that immature oocytes were protruding from clusters of ovarian cells. To help the oocytes mature, the surgeons developed a system that would keep them within the ovarian cells. The also found that the cells expressed germ cell markers which occur in early stage eggs. The oocytes began to form a membrane that forms around the ovum as it develops. The surgeons believe that these new oocytes can be matured to a certain point in humans. They would then be put back into the female patient where they could be fertilized naturally or in vitro and planted in the uterus. The woman would also not need any additional hormone replacement therapy.

While they were able to successfully create early stage eggs, much research still needs to be done before this can actually be applied to humans. Regardless, this finding is great news for any woman who is infertile and still wants to bear a child. It is amazing that science can help people in so many ways, this being only one of them.

Genome Test Could Reduce Death in Critically Ill Babies

In the United States, up to one in three babies that enter the NICU have a genetic disease. As of right now it could take weeks to test for just one gene, but there is a new prototype where whole genome testing would only take 50 hours from a blood sample. There are around 3,500 known genetic diseases caused by mutations in DNA, and in critically ill babies these can progress rapidly. Out of these 3,500 genetic diseases, around 70 need the treatment as early as possible in order to prevent disabilities and life-threatening diseases.



 

 

 

 

 

 

 

This whole genome sequencing, STAT-Seq, allows doctors to make practical decisions without misdiagnosis, or waiting countless days that the critically ill babies may not have. The software allows symptoms and conditions to be entered which is one of the reasons why results can be given so quickly. Because this test cuts down so much time and many other tests, it has the potential to lowering costs of genetic testing in the NICU. If this testing is accurate, it could make such a difference in the NICU. Being able to find out if your child has a genetic disease in 50 hours, rather than waiting weeks, would save families so much stress and fear. This will also keep the babies from going through further pain, and hopefully bring up the survival rate of premature babies. I am very excited to see the possibilities and results that this testing can bring.