Posts Tagged ‘gene’

Scientists are reporting in the current New England Journal of Medicine the surprising finding of genes associated with stuttering. The study, lead by researchers at the National Institutes of Health, identified three gene mutations as sources of stuttering. “This is the first study to pinpoint specific gene mutations as the potential cause of stuttering, a disorder that affects 3 million Americans, and by doing so, might lead to a dramatic expansion in our options for treatment,” said Dr. James Battey, director of the National Institute on Deafness and Other Communication Disorders. Stuttering tends to run in families, but this is the first study to demonstrate a genetic component, which was found in study volunteers from the US, Pakistan, and England. [via StutteringHelp.org]

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Scientists report today in the journal Nature that the genetic codes of two of the most commons cancers – skin and lung – have been sequenced in their entirety. It was found that melanoma skin cancer contains more than 30,000 DNA errors, mostly due to sun exposure. Lung cancer contains more than 23,000 gene errors largely as a result of cigarette smoking. The identification of these genetic errors will allow us to develop new drugs which can potentially target each of these site specifically. As well it’s conceivable that blood tests can be developed to detect DNA patterns which are unique to each type of cancer. This landmark accomplishment is the first step in the effort lead by the International Cancer Genome Consortium to catalogue all the major cancer types. Scientists in Japan are working on decoding the sequence for liver cancer, India on mouth, UK on breast, China on stomach, and the US on brain, ovary, and pancreas. [via BBC]

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New findings published in the Proceedings of the National Academy of Sciences this week points to a gene that may be present in 20% of caucasians with high blood pressure. The STK39 gene directs the production of a protein that controls how kidneys process salt – a key factor in blood pressure fluctuation. When the body retains too much salt it also retains water, which is why those with hypertension are always advised to eat a low salt diet. Although this discovery will likely lead to new treatments, hypertension is a complex disease that can have many contributing factors – family history, diabetes, poor diet, lack of exercise, smoking, obesity, just to name a few. So as you can see, even if you don’t have the STK39 gene there are plenty of ways to get hypertension. And if you do have the gene there are likely other risk factors which you can do something about.

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A British baby due this week will become the first child to be born with certainty that it does not have the BRCA1 gene mutation. Approximately 5% to 10% of breast cancers are believed to be due to genetic mutations inherited from parents – the most common being the BRCA1 and BRCA2 genes.  Because the British couple conceived through in virto fertilization, they were able to screen for cystic fibrosis, Huntington’s disease, and now BRCA1, at the 6 to 8 cell stage prior to implanting the embryo into the mother’s womb. All the women on the father’s side of the family have developed breast cancer, which is why the couple decided on genetic screening. Women who inherit the BRCA1 gene have up to an 80% increase in risk of developing breast cancer.

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