Food. A Death Sentence?

In an article from the New York Times, a thirteen year old girl, Rachelle, is highlighted, and at a height of four feet and seven inches she weighs two hundred and seventy eight pounds with a constant struggle with weight gain. This struggle is due to a rare chromosomal abnormality called Prader-Willi syndrome. This is an interesting disorder, because in the first few years of life there is a lack of interest in food and eating, but then there is switch to a constant need to eat without the sensation of satiety. Prader-Willis Syndrome  is characterized at infancy by weak muscle tone, trouble feeding, poor growth and development. During childhood this switches to having an insatiable appetite, hyperphagia, and obesity. This particular disorder is due to a loss of function of genes on chromosome 15.

Rachelle, from the article in the the New York Times, is brought to the center of Pradis-Willis Syndrome in Pittsburgh, which is one of the few in the America that treats this disorder. Not only does this disorder affect the weight of an individual due to the insatiable appetite, behavior is highly affected with symptoms akin to autism. This makes individuals with the disorder harder to empathize and adapt to changing situations. According to the article, our impulse to eat is linked with the hypothalamus. Studies show that those with the disorder show high activity in the hypothalamus even when they should feel full after a high-calorie meal. In normal individuals, activity is low after meals, because they are satiated. I find this particularly interesting, because those are obese are often faulted, and believed to not have enough willpower to stop eating and maintain fitness. For some individuals there is much more than a matter of willpower when concerning their weight and overall health. This article highlights that food is a death sentence for these kids. Some may see those with the disorder as just another fat kid, but in reality this is just as lethal as a peanut allergy. Instead of peanuts being lethal, it's all food if not monitored.

Is Cancer Random?

Scientists suggest that many causes of cancer are caused by a Random Genetic Mistake, or mutation, that occurs when healthy cells divide. According to a study random mutations may account for two-thirds of the risk of many types of cancer leaving the "usual" suspects to account for one-third. Researchers Cristian Tomasetti and Dr. Bert Vogelstein suspected that chance had a role but didn't expect the results to be this extent. The phenomena went beyond their expectations, being about double what they thought it would be. Dr. Tomasetti and Dr. Vogelstein say "finding that so many cases of cancer occur from random genetic accidents means that it may not be possible to prevent them". According to them there should be more of an emphasis on developing better tests to find cancers earlier enough to cure them. And since cancer leaves a signal of its presence we just have to become smarter about how to find them.

I found this article interesting because I believe it to be true. For a while I've believed that some cases of cancer could be caused by a random genetic mutation. And although other outside sources cause cancer, for example Cigarettes increase your chances for lung cancer. But there's that word Chance. The possibility, it's not a sure thing and a majority of people know someone who has been an avid smoker for most of their life and doesn't have lung cancers as well as someone that has never smoked a day in their life and has, by chance, obtained cancer. 

How Illness is Connected To Our Genes

In an article recently release in The New York Times author Gina Kolata sheds light on how genes that cause diseases are turned on and off. Researchers at Johns Hopkins University School of Medicine and the Karolinska Institute in Sweden have been working with the idea of chemical tagging. Essentially what they are doing is working with a certain kind of disease, in this cause rheumatoid arthritis and seeing what chemicals tell that gene to turn on and off. This is a field that is now up and coming which is called epigenetics. The researchers looked at 354 people with rheumatoid arthritis and 337 who did not have it, they looked at their white blood cells and chemical tags for methyl groups that could attach and turn the genes on and off. Tracking the gene was the easy part, but tracking the chemical tag was difficult because they can change under many different circumstances such as; temperature, level of activity, and even diet. The researchers were able to find 4 chemical tags that seem to correlate directly with the arthritis. Now that they have come this far they are looking for ways to regulate these chemical tags and control the arthritis.

In my opinion, the world of epigenetics is very large and this kind of work is very necessary. As a society we spend a lot of timing looking into diseases that will kill you very quickly, but not as much time on diseases that are lowering your quality of life. If we were able to take this same technique and apply it to other dabilitating diseases than we would have a much happier world. Ideally the world of epigenetics would be able to make a better tomorrow for our children so they do not have to pay for the mistakes of their parents.

Primary Article

Secondary Article

Want to keep your wits as you age? Let’s hope you have the gene for it.

A new study has reported that a gene variant, KL-VS, is believed to play a role in longevity with individuals with the gene, as well as ensuring that they retain their intelligence. People that carry this gene variant have a larger volume in a front part of the brain that is involved with decision making and planning. They also perform better on tests that revolve around working memory and the brain’s processing speed, which usually slows down with age.

The specific gene involved is called KLOTHO, and it provides the coding for a protein, klotho, produced in the kidney and brain that regulates many processes. The KLOTHO variant, KL-VS, has been found to increase klotho levels, longer lifespan, and better heart and kidney function. Researchers conducted a study where they analyzed the brains of several individuals. They found that those with one copy of the variant gene had 10% more volume in the brain region called the right dorsolateral prefrontal cortex; on the other hand, the brain region shrank with those containing two copies of the variant gene or without the variant altogether. 

Another study with mice demonstrated the same results. Mice with one copy of the gene variant lived longer and were smarter at baseline. Altogether, studies have indicated that KL-VS promotes slower aging of brain function enabling individuals to lead longer and healthier lives. There is also some evidence that this gene variant may perhaps lead to treatments that slow brain aging and help individuals who suffer from dementia. 


Given the results and evidence provided by professional studies involving KL-VS, it is fascinating to see how a single gene can allow someone to live a longer and healthier life. Of course, environmental factors also contribute to how long one lives; however, a gene that can slow brain aging and boost structure and function might counter the effects of diseases affiliated with the brain and help give more effective treatments to people suffering from those diseases.

Original Article click here.
Related Article click here.

Mutated gene in dogs could help treat blindness

In humans and dogs incurable blindness is usually from inherited retinal diseases. Since the ocular anatomy in dogs and humans are similar scientists found that studying  dogs can help them get a better understanding of these diseases and help in finding new treatments in blindness.

In a recent article from Science Daily, a group of scientists from the University of Helsinki and Michigan State University did just that. They conducted a study in which they looked at 324 blood samples of Swedish Vallhund dogs who are known to get retinal diseases. They found that the retinal disease was linked to a mutation in the MERTK gene. They also found that the retinal disease in these dogs  known as progressive retina atrophy were similar to the human disease retinis pigmentos. With further research these scientists are working towards a treatment that will inhibit the mutated gene in humans and dogs hoping to prevent blindness. I believe this is an interesting study and will hopefully help in the future with blindness in humans and animals. I am interested to see what the new studies will lead to in the future.

Secondary article

Hangover blues? Blame your genes.

      A new study shows that hangovers, at least in part, may be attributed to your genetic makeup. Researchers tested this hypothesis on twins in Australia and found that, in addition to some outside factors, in some cases people can consume the same amount of alcohol as another person and not have a hangover, while the other person will get a hangover. "Researchers looked for links between peoples genetic makeup and the amount of hangovers they had reported in a year," while taking factors such as consumption time, tolerance and if and how much food was consumed while drinking into consideration. Researchers used twins to reenforce their hypothesis that alcohol resistance is genetic by asking the twins about their drinking in the past year. They found that in many cases the twins hangover levels were very similar. Data showed that people with "hangover genes" were more likely to drink to the point of intoxication more often than people without the "hangover genes," yet would less frequently get hangovers. This phenomenon has raised questions regarding alcohol abuse becoming a problem more often in people with "hangover genes". This information could help reenforce the notion of genetic alcoholism.
http://news.discovery.com/human/genetics/hangovers-are-about-half-genetic-140826.htm

Genetic Variation in Mexican Scrub Jays

Aphelocoma wollweberi, more commonly know as the Mexican Scrub Jay has recently come under genetic scrutiny because certain populations of them have, seemingly, begun to diverge from other populations which are remaining "pure". Scientists believed that this could be due to hybridization with their relative the Western Scrub Jay, Aphelocoma californica. These birds, in some cases, are known to live in close proximity to one another and share many of the same physical characteristics. Researchers conducted randomized genetic testing of various Mexican Scrub Jay populations living in close proximity to the Western Scrub Jay populations to see if there was significant hybridization. Their results showed that there was very limited hybridization. Scientists now speculated that the similar appearance may be the result of drift, adaptation, or plasticity.

http://www.ncbi.nlm.nih.gov/pubmed/15315684 

http://www.biomedcentral.com/1471-2148/14/135

Obama’s Initiative for Patient Tailored Treatment through Genetic Research

 

The New York Times recently released an article stating that President Obama wishes to start a new initiative that will invest hundreds of millions of dollars in the development of treatments through the study of individual’s genetics. This initiative will support biomedical research being done by the National Institutes of Health as well as support the regulation of diagnostic tests by the Food and Drug Administration.

Doctors plan to use genetic information to determine what treatment plan will be most effective for cancer patients, and patients with other diseases. This form of treatment has helped reverse cystic fibrosis by identifying each patient’s genetic mutation on a personal level rather than treating every patient alike.

This initiative sounds interesting, but is still in its infancy. Once it’s further explained in the President’s budget we will have a greater understanding of this initiative. I like the idea of not treating each patient as a typical patient. There are several forms of a single disease and this initiative may help pin point exactly what is necessary to save a patient’s life. I look forward to seeing further information on this initiative.

Freinds Don't Just Share Similar Likes and Dislikes, They May Share Similar



Scientists from University of California and Yale have found that the friends are pretty similar when it comes to genetics.  They are much more similar than strangers within the same population.  The focus was turned to the 1,932 participants that were in the 1948 Framingham Heart Study.  Gene variations were compared between sets of two unrelated friends and sets two unrelated strangers.  Results showed that 1 percent of the gene were shared between friends.  The other factor they observed was whether the friends came from the same ethnicity.  Majority of the participants in the Framingham Heart Study originated from Europe.  This just meant that they came from the same population.

This finding also proves that the similar genes that friends have are evolving faster than other ones.  So, the social environments are very important to evolution. 

http://blogs.discovermagazine.com/d-brief/2014/07/14/friends-share-similar-genes/
https://www.framinghamheartstudy.org/about-fhs/index.php

Enviornment vs. Genetics in Relation to the Immune System

         

 The New York Times recently released an article stating that immune system function depends more on the environment and the germs you encounter than genes. Davis, director of Stanford Institute for Immunity said, “experience counts more and more as you get older.” A persons immune system adapts as they go through life to fight off diseases. 

          In order to study this hypothesis, scientists compared 78 pairs of twins with identical genetic makeups to 27 fraternal twins. Fraternal twins do not have identical genetics, their genetics are no more alike than siblings. Scientists know there is tremendous variation in how the immune systems of healthy individuals function. Davis asked if that's more a matter of nature or nurture, by comparing 78 pairs of twins with identical genetic makeups to 27 pairs of fraternal twins, who are no more alike genetically than any other siblings. 

          Researchers gave the flu vaccine to twins and found that genetics doesn’t determine how many flu fighting antibodies were produced. Davis stated that he is a strong believer of the power of dirt, but this study cant off health advice, it just shows that environment plays a huge role in what your immune system looks like. 

          The results of this article were somewhat surprising to me. Everyone has heard the expression “rub some dirt on it”, but I never thought of this as a viable option to improve immune health. This article does not support the “rub some dirt on it” method, but it does suggest that the germs you are exposed to truly do build your immune system.

A possible cure for HIV

HIV is a Human Immunodeficiency Virus that affects the immune system. It makes people much more vulnerable to infections and diseases. It is found in the bodily fluids of an infected person such as through blood. The virus can be passed from one person to another though blood to blood and sexual contact. 

A recent article on Science Daily discusses HIV and how it can lie dormant in infected cells for years or even decades. Scientists think unlocking the secrets of this viral reservoir may make it possible to cure and not just treat HIV. A team of researchers led by Zanvil A. Cohn and Ralph M. Steinman at Rockefeller University and their collaborators describe new insights on which cells likely do and do not harbor this latent virus. These researchers think the reservoir of latent virus may be hiding out in a type of CD4 T cell: long-lived memory cells that help the immune system remember particular pathogens. 

 I believe that this research is important and will aid in saving many lives in the future. More than 1.2 million people in the United States are living with HIV infection, and almost 1 in 7 are unaware of their infection. Finding a possible cure for HIV will lower these numbers greatly.