A genetic mutation connected with an inherited form of Lou Gehrig's disease known in the medical world as amyotrophic lateral sclerosis (ALS) has been recognized by an international team of researchers. About five percent of ALS cases are hereditary. In their study, the team used a new type of genomics technology called exome sequencing to find the mutation in the valosin contain protein (VCP) gene, which has been explain as a molecular "chaperone" aiding various cellular activities such as protein breakdown.
"Identify the genetic mutations responsible for the inherited form of ALS increases our knowledge of the disease process. Mutations in the VCP gene show to cause one to two percent of the familial ALS cases," project leader Dr. Bryan Traynor, of the Laboratory of Neurogenetics at the U.S. National Institute on Aging, said in an NIA news free. ALS is a rapidly progressive, fatal neurological disease that destroy the neurons that control unpaid muscles. People with the disease lose their strength and the aptitude to move their arms, legs and body. They finally lose the ability to breathe.
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Medical experts warned consumers in comments published on Wednesday to be careful about genetic tests that purport to forecast various diseases, saying they added little value beyond what consumers already knew. Risk factors like smoking, lack of exercise, age, hypertension and family history were regularly more reliable predictors, said researchers in Australia, who published their remark in a paper in PLoS Medicine. "Studies done for diabetes, heart disease and common cancers have recognized a large number of genes associated with increased risk of developing," said lead writer Wayne Hall, a professor at the University of Queensland Center for Clinical Research.
"But the charge and enlarged risk of any one of these genes is often trivially small. It's not information you can perform on," he said by telephone. There have been long-term studies tracking huge numbers of people over time to see if those with certain gene mutations go on to enlarge associated diseases, but Hall said such genetic information was no greater in predicting disease. "In general, adding the genetic information doesn't recover on the ability to forecast over and above what you know about existing risk factors," he said. "So knowing that you smoke, blood pressure, your gender, family history and age.
They are still good predictors of disease risk and genetic information regularly doesn't do as well as those fairly crude predictors of disease risk." The note of caution comes as patrons are swamped with offers of genetic tests many on the Internet that purport to expect many different kinds of diseases. "I wouldn't purchase some of these tests myself. They have very restricted use and if I have reason to suspect I have some gene that is powerfully predictive of disease risk, I will go through a proper genetic testing curriculum because there is very small value in these genome-wide scans that are being marketed," Hall said.
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People, who are more at risk of disease, are more likely to give too much significance to genetic causes of disease than alter their lifestyle, according to researchers. According to Dr. Suzanne O’Neill from the National Human Genome Research Institute/National Institutes of Health, and her colleagues, people on the whole are still interested in how health behaviors affect disease risk.
However, those with the most need to change their behaviors are more likely to favour genetic explanations for their diseases and the more behavioural risk factors they have, the less likely they are to be interested in behavior modify information. The completion of the Human Genome Project has led to improved availability of genetic risk information linking gene variant to a number of ordinary health conditions.
There is some concern that this genetic risk information might prompt some individuals to give genetic causation unnecessary importance while downplaying the donation of well-known behavioural and ecological factors, leading to reduced motivation to make behavioural changes. This potential misinterpretation of genetic information may undermine public health efforts to encourage the behavioural changes needed to avoid disease.
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