Researchers Find Missing Component in Effort to Create Primitive, Synthetic Cells

An illustration of protocell, composed of a fatty acid membrane encapsulating RNA ribozymes

 

A team of investigators from Massachusetts General Hospital is trying to create “protocells”. These cells are primitive synthetic cells, which have a nucleic acid strand enclosed within a membrane-bound compartment. This is an important initial step that was accomplished toward their objective. They were able to discover a solution to the “potential incompatibility between a chemical requirement of RNA copying and the stability of the protocell membrane.” The process enabled the scientists to do nonenzymatic RNA copying inside the fatty acid vesicles. It appears that by replicating what a cell looked like, they have possibility unlocked the mystery of the origin of cellular life.

In order to determine the problem the scientists tested the need for MG and the RNA molecule with the ion’s ability to degrade fatty acid membranes. Further investigation addressed which chelators could help the process. They tested each chelator to see if RNA assembly would occur. They discovered that the chelator protects the membrane which allows the RNA copying. This process was successful in laboratory conditions, but one must consider what conditions existed millions of years ago.

Finding this solution to how the first cells developed could establish alternative medial options for illnesses with unknown cures.  This also might aid scientists to determine how human cells will evolve in the future.

http://www.sciencedaily.com/releases/2013/11/131128141401.htm 

http://www.eurekalert.org/pub_releases/2013-11/mgh-rfa112213.php

 

http://exploringorigins.org/protocells.htmlA

Medical Records Show There's a Genetic Link to Skin Cancer

Researchers found a new way to identify genetic problems in humans using medical records. One discovery that stood out was skin disease. The team of researchers compared the patients conditions to their gene variants in their data. Instead of going through the genetic basis they identify by genetic associations of different diseases. Looking at the genetic association could lead to understanding how single genes can affect multiple characteristics and condition of skin cancer. The study started off small with 13,000 electronic medical records, but in the future they hope to use a larger data set. 

This is less expensive, more affordable, and a more subtle research. This is a good idea for those reasons and also it will take less time to identify problems. 

Aging cells could be to blame for late-life cancers

Researches have found that cancers aren't only linked to genetic damage. From old age, cells start circumventing which activates a switch that tells the cell to stop growing - causing cancer. Researches observed old aging cells slowly losing the control over methylation. Methylation is the process of chemically tagging DNA. The stop of cell growth and multiplication is linked to cells becoming cancerous. Although things still remain unclear, this is a vital research that can help develop ways to prevent late stages of cancer and maybe even a cure. 

Constantly we find new information on how genetics plays a big part of our health. With continuing research there is hope for those who develop cancer at a late age and state. Finding other reasons as to the cause of cancer is ironically great because the more information you receive the better chance we have to fight it.

http://www.medicalnewstoday.com/articles/269426.php

Protein that triggers immune response to viruses identified

Massachusetts General Hospital has found a protein that is linked to triggering the body's immune system response against infection caused by viruses. The protein known as GEF-H1 helps the macrophages - the eating machine that eats away materials and pathogens - react to viral infections, which also sends the body a response signal to fight the infection. The macrophages initiate the innate immune system - the first line of defense that sends white blood cells, cytokines, and antimicrobial peptides to stop the invasion. It is said the the gene GEF-H1 controls the response by binding to microtubules and recognizing bacteria.

The Hospital has also found that without GEF-H1 the tested mice were not able to be protected from two viral infections. Influenza A and enchephlomyocarditis were not attacked by the immune system. It is said that this could be due to viruses being capable of creating a resistance against the immune response. they are able to develop strategy's to prevent the immune system from stopping them so they can continue their invasion. However the discovery doesn't discourage the researchers, they hope to find a way to destroy the viruses strategy.

Knowing that researchers are constantly looking for ways to prevent viral infections and any other pathogen is reassuring. This means we are one step closer to developing a technique to ensure everyone has a healthy life. Our body holds many secrets but when we find these secrets it we find new ways to create treatments with the knowledge that comes out of research.

Gene Mutation and its Relation to Alcohol Abuse

If you ever find yourself with an alcohol problem, it may be due to a faulty gene inside your DNA. Alcohol is one of the most abused drugs and now researchers may know the true reason behind why alcoholism is such an epidemic. A team of experts joined together and collected a group of mice for their experiment. The objective was to see if the gene Gabrb1 would drive the mice to drink alcohol in large amounts if mutated. The experiment showed that the mice with the mutated gene were more prone to drink alcohol than water. The mice consumed nearly 85% of their daily fluid intake with the alcohol. The mice also were put in obstacles whelre they would have to get to the alcohol by pushing over a lever. The researches said they worked very hard to get to it, which is like a person with alcohol problems who go out of there way to get alcohol in their systems no matter what it takes. The mice also consumed enough alcohol within an hour that would make them intoxicated which would trigger signs of intoxication like difficulty moving. Apparently the mutated gene causes a receptor in the brain called the GABBA receptor to activate randomly even when the GABA gene, which is a chemical messenger inhibitor, is not present. "The mutation of the Beta1 containing receptor is altering its structure and creating spontaneous electrical activity in the brain in this pleasure zone, the nucleus accumbens. As the electrival signal from these receptors increase, so does the desire to drink such an extent that mice will actually work to get alcohol, for much longer than we would have expected," Dr. Anstee. The team who conducted the experiment knew from the beginning that the gene GABA was involved in alcohol consumption, but now after this study that a particular part of GABAA receptor has an enormous impact. 
Although it is not all clear to everyone yet I know this article is beneficial and important for all those who know someone who has a problem with alcohol consumption. It could possibly lead to a way to help those who abuse alcohol on a daily basis. It's amazing to know that genes really have an impact to who we are today. What was once thought to be an environmental effect could also be a gene defect. I do however think that both factors would come into play for those who cannot control their alcohol intake.  

Genetics breakthrough enables scientists to edit any part of human genome, report claims

According to The Independent a  new technique, known as Crispr has been discovered in Britain. This would allow scientists to engineer parts of the human genome with precision and accuracy. Originally developed to alter the DNA of crops and livestock, it is now being looked at to treat diseases such as cancer and inherited genetic disorders. Crispr works by using an RNA guide molecule that can be programmed to match any unique DNA sequence. The molecule is attached to a special enzyme that cut both strands of the DNA double helix. After this is done the then copied DNA is inserted back inot the double helix. Then the defecrtive DNA is deleted.  

Link: 
http://www.foxnews.com/science/2013/11/07/report-genetics-breakthrough-enables-scientists-to-edit-any-part-human-genome

Related Links:
http://www.independent.co.uk/news/science/exclusive-jawdropping-breakthrough-hailed-as-landmark-in-fight-against-hereditary-diseases-as-crispr-technique-heralds-genetic-revolution-8925295.html

http://www.genome-engineering.org/crispr/

Genes outside the Nucleus “Punch above their Weight”

While DNA is found mostly in the nucleus, there are organelles in human and plant cells that also contain genetic material. These organelles include mitochondria for human cells and chloroplast for plant cells. It has recently been discovered that the DNA contained in these organelles is important as well. When scientists looked at genes found in chloroplast in 300 species of Arabidopsis plants, they found that they influenced concentrations of sugars, metabolites and amino acids. The fact that this powerful DNA lays outside the nucleus is groundbreaking discovery. It was known that these genes existed outside the nucleus however the degree which they affected metabolism has recently been discovered.  They believe this research can open new pathways for treatment for diseases such as obesity. In terms of vitro fertilization therapies it is believed that damaged mitochondria is being passed from mother to child. A treatment option that is being looked into is removing the nucleus from the mitochondria of the faulty egg and replacing it with healthy mitochondria. The new egg can then be fertilized. This method has been tested on animals however the interactions between mitochondria DNA and nucleus DNA is not fully understood so more research needs to be done. By shifting attention away from nucleus DNA and looking at organelle DNA we may be able to better understand certain diseases.    

Link:

http://www.insidescience.org/content/genes-outside-nucleus-punch-above-their-weight/1456

Related Links:

http://news.ucdavis.edu/search/news_detail.lasso?id=10743

http://mda.org/publications/facts-about-genetics-and-NMDs/genes-outside-cells-nucleus

Genetic Tests do not appear to Improve Control of Blood Thinners

When administering the blood thinner warfarin, patients need to be administered the proper dose. If too much is given there is a risk of internal bleeding and on the other hand too little and there is a risk of developing blood clots. There is a delicate balance when using blood thinners therefore patients are monitored closely when taking them. A genetic test is done to test two genes. One of the genes influences how the liver metabolizes warfarin, and the other is about how the body responds to the blood thinner. A recent study, done by the Clarification of Optimal Anticoagulation through Genetics, looked at patients on warfarin from 2009-2013. This study was done dividing patients into two groups. The first group’s warfarin dosage was determined by clinical information such as weight, age and smoking status. The second group was given a dosage based on genetic testing and this clinical information. They found that genetic testing played no role in determining proper dosage. Furthermore it was found that in African Americans in the study had conditions worsen six months after original diagnosis when their dosage was determined by genetic testing. Previously, no clinical trials were conducted before having this genetic test widely used. This new finding has doctors bringing up the question “Should genetic tests be required before clinical use?” 

Links:

http://www.medicalnewstoday.com/articles/269141.php

Related Links:

http://www.technologyreview.com/view/521861/genetic-testing-falls-flat-in-large-patient-drug-trials/

http://news.uic.edu/genetic-test-will-help-dose-blood-thinner

The Two-Faced Alzheimer’s Gene

         A team of researchers at Harvard University set out to understand gene apolipoprotein E or more commonly APOE and how it plays a role in Alzheimer’s disease. Currently this neurodegenerative disease is the 6^th leading cause of death in the United States. It is known that those carrying a specific version of the APOE called APOE4 increases the risk of developing late onset Alzheimer’s disease. The APOE gene is responsible for making proteins that transport cholesterol. Using mice with an “Alzheimer’s like disease” they injected each one with APOE2, APOE3 or APOE4. Mice that were injected with APOE4 had a 10% increase in plaque formation and amyloid beta. These plaque and amyloid beta tangles are a key suspected to play a key role in Alzheimer’s disease progression. Mice injected with APOE2 on the other hand were found to have a 10% decrease in these plaque formations and tangles. This research shows that while APOE4 decreases the number of synapse connections APOE2 protects them, mice injected with APOE3 were found to have no significant difference in Alzheimer’s symptoms. The findings of this study are exciting when thinking of the possibility of gene therapy. Currently about 14% of the population carries the APOE2 version of APOE while 7% of the population carries APOE4. The team now wants to look at ways to decreasing or inhibiting APOE2 and increase APOE2.
 

Link:

https://www.sciencenews.org/blog/scicurious/gene-boosts-alzheimer%E2%80%99s-risk-might-protect-against-it-too

Related Links:

http://www.medpagetoday.com/Neurology/AlzheimersDisease/43056

http://www.alz.org/

Novel Gene Therapy Works to Reverse Heart Failure

A new study that was published in Science Translational Medicine has said that a new gene therapy to treat heart failure is now in its final stage before it will start human clinical trails. This gene therapy will be used to treat heart failure in patients by shrinking their enlarged hearts and improving heart function. The patients that would find this treatment to be beneficial would be those individuals missing SUMO-1 gene. Dr. Hajjar is the main researcher for this type of treatment and has already has developed a gene therapy for the heart which targets gene SERCA2. The trials for this therapy are in its final stages and so far the results have been positive. The SERCA2 gene is delivered to the heart in a virus which is administered through the coronary arteries by heart catheterization. SERCA2 is responsible for producing an enzyme that helps pump calcium out of cells It has been found that only one dose is needed to restore proper enzyme levels.

 This is exciting news for the cardiovascular community because heart failure contributes to over 300,000 deaths a year. Gene therapy works by introducing new genetic material to abnormal cells. In this case SUMA-1 patients are missing this gene and by introducing it to the cell. SUMA-1 is responsible for regulating SERCA2's activity. It is believed that a combination of these two gene therapies would significantly improve blood flow, reduced heart volumes and produce stronger contractions. This is why researchers are going to explore the possibility of combining these two types of gene therapy. 

                                Coronary arteries of the failing heart delivering SUMO1

Link:

http://www.sciencedaily.com/releases/2013/11/131113143131.htm

Related links:

http://www.mountsinai.org/about-us/newsroom/press-releases/novel-gene-therapy-works-to-reverse-heart-failure

http://www.globaltimes.cn/content/825075.shtml#.Uo-Ds9KsiSo

Supreme Court Verdict on Patenting Human Genes

              With more advances and discovers being made in science everyday, researchers look to protect their hard work through patents. While patenting has been around for quite some time, new ideas in science are causing lawmakers to question the guidelines of patent laws. Specifically when it comes to genetics, the Supreme Court was recently faced with the difficult decision of deciding what can be and what cannot be patented. In a decision of 0-9 they have decided what companies can patent and call their own and what is natural and cannot be patented. Full strands of DNA which include coding and non coding sequences cannot be patented however cDNA which include just short coding sequences can be patented. An exception to this is short sequences that are indistinguishable from human DNA. Those cannot be patented. This ruling is justifiable with saying that anything that is not naturally found in humans such as these “abridged sequenced” cDNA strands can be patented.

This recent court case was stemmed from the fight over the patent for mutant BRCA1 and BRCA2 genes also known as the breast cancer genes. Myriad, the research company that identified that these mutant genes led to the development of breast cancer then patented them. They owned the rights to test women for these genes and determine their risk of breast cancer. In response others in the cancer community fought back saying that this patent inhibits their research and drives up the cost of breast cancer testing. Shortly after these genes were patented 20% of the human genome was also patented by various others. The court ruled that 5 of their patents were DNA while the other 500 were cDNA. This court ruling plays a critical role in where science is headed and how researchers conduct their work. They will need to shift their studies to follow the guidelines of this ruling or risk not receiving a patent on their research.  

    

                                          Breast cancer genes BRAC1 and BRCA2

Link:

http://www.dailytech.com/Supreme+Court+Gives+Mixed+Verdict+on+Patenting+Human+Genes/article31760.htm

Related link:

http://www.huffingtonpost.com/2013/06/13/supreme-court-dna-ruling_n_3435274.html

Blue-Green Algae Tested for Treating Amyotrophic Lateral Sclerosis

Recent studies at the University of Florida have found that a certain type of blue-green algae called Spirulina has shown to be beneficial when fed to mice with amyotrophic lateral sclerosis (ALS). ALS is also known as Lou Gehrig’s disease after the famous baseball player who was diagnosed with it. Characteristics of this disease include degeneration of motor neurons which causes muscle weakness and eventually paralysis and then death within a short period of time. When mice fed a diet rich in Spirulina supplements, compared to mice that were fed normally, it was found that there was less inflammation markers and less neuron death in those fed the supplement diets. It is believed that this alga contains β-carotene and phycocyanins that act as potent antioxidants. They also have anti-inflammatory effects. About 5%-10% of ALS cases are genetically linked. Many cases are believed to be sporadic however with more research being done, more genes are found to be linked to this disease thus more cases are being diagnosed as genetic. One gene to that is linked dominantly to this disease is TDP-43 which when mutated causes TDP-43 protein, which binds to RNA, to mislocalize in motor neurons. Mutations on genes C9ORF72 and SOD1 are also causes of ALS although it is not understood why yet.  Treating this disease with Spirulina supplements is a way to slow down the progression of the disease while more research can be done involving the underlying genetic factors which are not yet fully understood. 

Spirulina

I think that a natural treatment for a genetic disease is not seen too often and this is why this research is interesting. I think that while gene therapy and using genetics to identify the underlying causes of a disease are important, using treatments such as plants or algae are a great alternative to pharmaceutical drugs.

Link: http://www.sciencedaily.com/releases/2010/12/101221101833.htm

Related Links:  http://www.dailytech.com/ALS+in+Mice+May+be+Treated+with+BlueGreen+Algae+Supplement+/article20455.htm

http://www.benthamscience.com/open/totermj/articles/V003/36TOTERMJ.pdf

Gene's Assocated with Eczema In Dogs

 

 

 To-date, despite many scientific efforts, little has been known about the genetics of the disease. In their study, researchers from Uppsala University, SLU and Broad Institute, compared DNA samples from a large group of German shepherd dogs affected by atopic dermatitis with DNA coming from healthy dogs to reveal the specific DNA segment associated with the disease.
"With the help of pet owners, we have managed to collect a unique set of DNA samples from sick and healthy dogs which allowed us to gain insight into atopic dermatitis genetics," said first author Katarina Tengvall, Uppsala University.A novel gene associated with canine atopic dermatitis has been identified by a team of researchers led by professors Kerstin Lindblad-Toh, Uppsala university and Åke Hedhammar, SLU, Sweden. The gene encodes a protein called plakophilin 2, which is crucial for the formation and proper functioning of the skin structure, suggesting an aberrant skin barrier as a potential risk factor for atopic dermatitis.These findings will not only lead to better understanding of the disease, which may lead to better treatment strategies long term. It also opens up the possibilities of development of a genetic test for the disease. The finding that certain variants of the PKP-2 gene may increase the risk of developing the disease opens new possibilities in understanding the disease mechanism leading to atopic dermatitis.

http://www.sciencedaily.com/releases/2013/05/130509184641.htm
http://www.evolutionsupply.com/blog/page/17/
 

Effects of Genes on Human Traits

Recent technological developments in genomics have revealed a large number of genetic influences on common complex diseases, such as diabetes, asthma, cancer or schizophrenia. However, discovering a genetic variant predisposing to a disease is only a first step. To apply this knowledge towards prevention or cure, including tailoring treatment to the patient's genetic profile -also known as personalized medicine we need to know how this genetic variant affects health.  Until now, researchers have been focusing on the effects of disease-associated genomic variants on DNA-to-RNA transcription, instead of the challenging question of effects on RNA-to-protein translation, says Dr. Polychronakos. Thanks to this methodology, we can now better understand the effect of genetic variants on translation of RNA to protein a powerful way of developing biomarkers for personalized medicine and new therapies."

                                                             http://t1.gstatic.com/images?q=tbn:ANd9GcRltlYKP4qHrspEozbEsfitbi2CF_5mwtsMdK7fUvHux5MdACDm

http://thednaexchange.com/2010/08/27/genetics-and-teachers/

200 Genes Linked to Chron's Disease

More than two hundred gene locations have now been identified for the chronic bowel condition Crohn's Disease, in a study that analyzed the entire human genome.This study shows how studying smaller but better defined groups can lead to a better understanding of how complex diseases are inherited, and paving the way for personalized treatment.

 

Crohn's Disease, a type of Inflammatory Bowel Disease, is a chronic illness of complex origins affecting approximately 100 to 150 people per 100,000. Understanding the genetic component of such complex diseases is central to explaining patients' symptoms and improving treatment.
Despite Crohn's having a large genetic component, this has been hard to dissect. This is partly due to the large number of genes involved, their complex interactions with environment and the spectrum of clinical presentations. As a result, many scientists have been focusing on ever larger cohorts of patients under the impression that larger data sets data will give better results.

http://www.sciencedaily.com/releases/2012/12/121213121805.htm
http://health.rush.edu/HealthInformation/In-Depth%20Reports/10/000103.ASPX
 

Molecular Defense against Huntington Disease

Leicester geneticists have discovered a potential defence against Huntington's disease a fatal neurodegenerative disorder which currently has no cure. A team of experts from the University's Department of Genetics carried out research for more than six years to identify new potential drug targets for the disease.


The team of University of Leicester researchers identified that glutathione peroxidase activity a key antioxidant in cells protects against symptoms of the disease in model organisms.
They hope that the enzyme activity whose protective ability was initially observed in model organisms such as yeast can be further developed and eventually used to treat people with the genetically-inherited disease. The disease affects around 12 people per 100,000.

http://www.sciencedaily.com/releases/2013/08/130825171552.htm
http://mindletters.com/2012/10/10/dear-dr-huntingtons-disease/

Brain Development in Infants Linked to Alzheimer's

Researchers from Brown University and Banner Alzheimer’s Institute have found that infants who are carriers of the gene associated with Alzheimer’s also have different brain development than those who do not have the gene. The gene linked to Alzheimer’s is APOE-E4.

After taking images of 162 healthy brains of infants between 2 and 25 months, researchers found that infants happened to have an increased growth in the frontal lobe and decreased growth in the middle and rear areas of the brain. Although these findings do not indicate that these infants will definitely have Alzheimer’s later in life, it shows that there is a difference in development from infants who do not have the gene for the disease.

In discovering this difference in infant brains among those who are genetically set up for Alzheimer’s enables us to better understand the disease and what is happening. If we further our knowledge with studies such as these, we will be able to better detect and possibly find better treatments for Alzheimer’s.

Original Article 

Genes Associated with Alcoholism

Researchers from the University of Iowa Carver College of Medicine and Yale University Medical School have recently found 39 genes that when together are strongly associated with alcoholism in human beings. The researchers viewed different genomes of 1,000 people and tried to find a single gene responsible for the disorder. However, when looking at all of the genes together, 39 of them were discovered to have a correlation with alcoholism. This study was based on not the genes individually, but the protein products they produce. When all 39 genes work together, they produce alcoholism.  

With this discovery, we now know that alcoholism is linked to genetics. In discovering this, we can try to find a drug that can treat or prevent this disorder. Perhaps one day we will be able to greatly reduce or even eliminate alcoholism from the world. 

Original Article 

The Genetics of Red Hair

I found it quite interesting to note that the rarest natural color of hair is red.  Scientists have determined that this is due to the mutations on a gene known as MCIR.  In the 1990’s, scientists focused their research on chromosome 16 and one of its genes, MC1R. 

The MC1R gene is located on the long (q) arm of chromosome 16 at position 24.3.

Cytogenetic Location:  16q24.3

Molecular Location on chromosome 16:  base pairs 89,984,286 to 89,987,384.

Scientists have determined that individuals with red hair have more amounts of phaeomelanin than eumelanin.  It appears that when there are two mutated versions  of the MC1R gene, the conversions are not as frequent and thus, there is a buildup of phaeomelanin in the pigment cells.  This results in red hair and fair skin, prone to freckles and an increased sensitivity to sun exposure.  Additional studies have suggested that variations in the MC1R gene may also increase the risk of developing melanoma in the absence of UV radiation-related skin damage.

Researchers from the University of Louisville suggest that redheads are more sensitive to pain, and require more anesthesia during surgery than individuals with blonde or dark hair.  This was contradicted by scientists from the University of Edinburgh and requires further research. 

A recent publication, this week,  by the managing director of the Scotland’s DNA project, Alistair Moffat,  leads us to believe that the gloomy climate in Scotland has resulted in the genetic adaptation of the population of Ireland to produce offspring with red hair.  This adaption allows the needed absorption of Vitamin D from the sun to maintain a healthy lifestyle.   Genetic adaption is quite fascinating and has been proven to be important in the survival of the human and animal species.

 

http://www.brighthub.com/science/genetics/articles/4704.aspx

http://www.ncbi.nlm.nih.gov/pubmed/7581459?dopt=Abstract&holding=f1000,f1000m,isrctn

http://ghr.nlm.nih.gov/gene/MC1R

http://www.irishcentral.com/news/Could-Irelands-cloudy-weather-be-the-reason-for-the-stereotypical-red-hair-178077221.html