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Parkinson's study may bring 'improved diagnostic strategies', testing

Category: General Health

An international team of researchers, including members of the National Institutes of Health (NIH) believes a genetic condition known as Gaucher disease considerably increases a person's risk of developing Parkinson's disease, according to the results of a new study.

Gaurcher disease is expressed in individuals with two defective copies of a gene, called GBA. The GBA gene controls the disposal of a fatty substance called glucocerebrosie, which can cause harm to the body's major organs when not properly broken down.

The study's findings, published in the New England Journal of Medicine, compared the frequency of GBA alterations in 5,691 patients with Parkinson's disease with 4,898 samples from a healthy control group. They found that those with Gaucher disease face a risk of developing Parkinson's that is five times greater than the general public.

The ability to locate genetic material that instigates Parkinson's disease may make blood and lab testing for the syndrome possible. According to Dr Eric Green, scientific director at the National Human Genome Research Institute, "Understanding the genetic basis of rare conditions can provide insights into normal cellular and biological processes, which in turn may lead to improved diagnostic and therapeutic strategies."

According to NIH, Parkinson's disease is a neurological condition that affects about 1 to 2 percent of people over 60-years-old.

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