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Gene for Some Parkinson's Found

Scientists at the National Human Genome Research Institute have for the first time precisely identified a gene abnormality that causes some cases of Parkinson's disease. The gene spells out instructions for a protein called alpha synuclein. In the abnormal version of the gene, the researchers found a mutation in a single base pair -- one incorrect letter in the string of more than 400 that compose the instructions for making the protein. Because the normal gene plays a role in the function of nerve cells, the finding gives researchers a powerful new tool for understanding cellular abnormalities in Parkinson's disease and demonstrates a connection between Parkinson's disease research and research into other neurological disorders such as Alzheimer's disease.

Dr. Mihael Polymeropoulos

The research appeared in the June 27 issue of the journal Science. According to NHGRI's Dr. Mihael Polymeropoulos, lead author, "the finding opens completely new horizons in understanding the disease and interpreting the biology of the illness. Moreover, the finding will have an application in the not too distant future as a clinical research tool within families especially prone to Parkinson's disease and may permit us to design clinical studies for investigating drugs or other ways of postponing or offering protection from the illness."

The paper confirms last fall's report, coauthored by the same NHGRI team, that a predisposition to at least one form of Parkinson's disease is inherited and that the gene responsible was situated somewhere in a large region on the long arm of chromosome 4. Until that report, most experts believed that Parkinson's disease was probably due to unknown factors present in the environment.

Parkinson's disease afflicts about a 500,000 people in the United States alone, with about 50,000 new cases reported every year. Its hallmark is shaking or trembling of a limb and, in the later stages, a slow, shuffling walk and stooped posture.

Parkinson's disease is a common progressive neurological disorder that results from loss of nerve cells in a region of the brain that controls movement. This degeneration creates a shortage of the brain signaling chemical dopamine, causing impaired movement. When symptoms grow severe, doctors usually prescribe levodopa (L-dopa), which helps replace the brain's dopamine.

Guidelines for the Use of Antiretroviral Agents
Announced June 19

NIAID director Dr. Anthony Fauci explains the new draft Guidelines for the Use of Antiretroviral Agents in HIV-Infected Adults and Adolescents that were announced June 19 by the panel on clinical practices for treatment of HIV infection.

All people with CDC-defined AIDS should receive combination antiretroviral therapy, preferably with three drugs including a protease inhibitor, says the document. Fauci is cochair of the panel of federal, private sector and academic experts that wrote the guidelines, which will be updated periodically. To view the document on the Web, visit

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