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Turning on and off genes that impact diseases

By David Dunaief, M.D.

http://www.northshoreoflongisland.com/Articles-i-2011-06-02-88423.112114-sub-Epigenetics-effects-ofenvironment-on-genes.html

June 01, 2011 | 09:38 AM

There has been a pervasive thought in both biology and medicine that humans are limited by their genes. It’s true that traits like height and eye color are dictated solely by the genes you inherit. If you want to change your eye color, for instance, contact lenses are the only way to do this — you can’t manipulate these traits.

Diseases also have a genetic component. So, are we locked in by our by genes, as far as disease goes? Not necessarily. Most chronic diseases are influenced by a combination of genes and environment. This means that your family history of cancer or diabetes, for instance, does not necessarily mean that you are highly likely to get the disease. Let me explain.

The point is that the environment must not be a forgotten as a factor is determining your genetic expression. Here we often remind patients that just because your test returns with a high genetic risk of developing a disease it does not 100% mean that you will get the disease. Genetic testing can only look at your genome it can not determine how you live your life, only you can do that. Environmental factors can include: stress, diet, exercise, exposure to chemicals, sleep patterns and more. These factors can all effect your biochemistry and which genes are “turned on”.

Some diseases have a much stronger genetic link then others. Clear familial links can be found in these diseases, these are also disease which are most commonly caused by a single genes. If a disease is caused by a singe gene then it is called autosomal. Other diseases such as cancers are still partially a mystery. Some cancers have a familial link, breast cancer being the most well known, and some appear out of nowhere. Some chemicals have be found to be linked to cancers but still much is unknown.

So what can we do…live the best you can with the knowledge you have.

A remarkably well-preserved shrunken head has just been authenticated by DNA analysis, which provides strong evidence that anecdotal accounts of violent head-hunting in South America were true.

The study, published in the latest issue of Archaeological and Anthropological Sciences, marks the first successful effort to unveil the genetic make-up of a shrunken head.

“The shrunken heads were made from enemies’ heads cut on the battlefield,” co-author Gila Kahila Bar-Gal told Discovery News. “Then, during spiritual ceremonies, enemies’ heads were carefully reduced through boiling and heating, in the attempt to lock the enemy’s spirit and protect the killers from spiritual revenge.”

Kahila Bar-Gal is a senior lecturer in the Hebrew University of Jerusalem’s Koret School of Veterinary Medicine. She is also a faculty member within the university’s department of Agriculture, Food and Environment.

Beside the fact that I find the idea of preserving someones head highly disturbing. By being able to collect sample from these old specimens can also give an insight into our own ancestry. Currently when ancestry testing is don it looks at very conserved regions in your DNA. This can include your Y chromosome DNA and your mitochondrial DNA. To determine these conserved regions on DNA, sample are collected from large population around the word such is that of the National Genographic Project (https://genographic.nationalgeographic.com/genographic/index.html). These sample are then aligned, this means that the sequences are stacked on top of each other and regional of similarity were “aligned” up with each other. From this the mutations can be tract back through the populations and elasticities to determine their ancestral origin. I think it would be interesting co compare our theoretical knowledge of our ancestry to an actual sample and what the sequence of the historic.

A Richmond company marketing a genetic test it claims can help match children and adults with sports they are most likely to play well and play safely announced Wednesday it would conduct studies to verify the test’s accuracy.

American International Biotechnology Services announced the step after meeting last week with officials at the Food and Drug Administration. The FDA had sent the company a letter demanding justification for marketing the test without the agency’s approval.

During the meeting with the FDA, the company “committed to working diligently over the next 30 days to submit a plan for performing studies to support Sports X Factor testing,” the company said in a statement.

“AIBioTech believes that everyone has a right to their genetic information without a prescription. Our main goal with Sports X Factor is to provide an affordable means for athletes and parents to access genetic information for the purpose of making informed decisions about maximizing performance while minimizing risk,” CEO Bill Miller said. “We recognize the FDA’s attention to thorough compliance and are pleased to cooperate with the organization at a time when human genomics is coming to fruition under the FDA umbrella.”

This article raises interesting questions about genetic testing. Should people actually have a right to their genetic information and should they be testing their children for athletic purposes? I think testing for disease and and allergies can be seen as very different from testing for sports performance. Disease testing are for the improvement of health and well being where as sport performance testing is for having a competitive advantage.

However I think most children end up staying in sports which they are good at naturally, or have a physical advantage it. Society praises children when they play a sport well. For example: As a child I used to play softball. I could only hit single and doubles, however teammates who could hit home runs usually got a prize after the game for either a voucher for a slice of pizza or ice cream. As a mediocre player, I never received any of these prizes and hence eventually stopped playing to pursue other sports which I was better at (I actually got into competitive swimming). I guess parent who want there children to be sports superstars can now skip this step of putting there child in a number of activities to find that they are good at an enjoy. But what is the child doesn’t like the sport they are supposed to be genetically go at playing and the parent keeps putting them in it, is this ethically correct? This is already done to many children even without genetic testing.

As an adult though I think this test is pretty interesting, it would be a cool thing to know about myself and the test also looks at health factors related to sports so to prevent injury. I think when it is for your information, go right ahead, no one is motivating you to do an activity other than yourself.

If the potential father is not available, then testing may also be done using aunts, uncles, siblings and grandparents. Maternity testing is also available. Contact a location near you for more information.

Its prognosis is good on the rare occasions where it is diagnosed early, but most ovarian cancers are only detected at a late stage when outcomes are poor. The most aggressive common type is high-grade serous ovarian adenocarcinoma; about 13% of cases of this cancer occur in women with germline mutations in BRCA1 or BRCA2.

Most cases, however, arise from a complex series of somatic mutations that have not yet been fully elucidated. Understanding more of the genetic picture of serous ovarian adenocarcinoma may help in developing more targeted treatments for this often intractable disease.
The Cancer Genome Atlas project was set up by the US National Institutes of Health in 2008 to collate and catalogue the genetic changes associated with cancer.

Following a pilot programme, its network of researchers is now analysing the genetics of over 20 different, relatively common tumour types. A group of Cancer Genome Atlas Research Network scientists led by Paul Spellman at the Lawrence Berkeley National Laboratory has now conducted a comprehensive analysis of the genetic changes associated with this disease.

The researchers sequenced the exomic (protein-coding) DNA regions from tumour and matched normal tissue samples from 489 patients with confirmed diagnoses of Stage II – Stage IV high-grade serous adenocarcinoma of the ovary. Micro-RNA expression, mRNA expression, DNA copy number and promoter methylation analyses were all carried out with the same samples using microarrays.

The samples reflected a typical pattern of age and cancer stage at diagnosis, tumour grade and outcome for patients with this condition.

Score another for cancer research. This article shows that the discovery of more genes and their functions in cancers are being discovered. Although discoveries are consistently taking place it is still a long time before we may see these discoveries be used for cancer treatments. It may however aid in early diagnostics.

Ovarian cancer is has a lower survival rate then other cancers and is often not caught until it is already in itslater stages. Genetic testing allows you to know your risk of developing it or other conditions. With more research the predictability get better.Should we be testing for this cancer an birth? In an earlier I had discussed some of the ethics in this. This would particularly an issue if insurance companies were able to get this information. DNA Testing Centres of Canada does not share your genetic information with anyone and it is kept confidential
Maybe learning exactly what these genes cause can give us a better look at what the early signs are of ovarian cancer.

A new research analysis has found a DNA test of a pregnant woman’s blood can accurately reveal the sex of her fetus seven weeks into the pregnancy — months earlier than usual methods.

The study, published Tuesday in the Journal of the American Medical Association, found the DNA test was accurate 98.8 per cent of the time if the fetus was a boy and 94.8 per cent accurate it the test indicated a girl.

The findings suggest the DNA test could be an important alternative to amniocentesis, the current gold standard to test for sex-linked genetic disorders which comes with a small, but real, risk of miscarriage, the U.S. researchers say.