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Marjorie Bekaert Thomas
Advances in health and medicine.
Neurological Disorders Channel
Reported May 16, 2012

Crucial Genes Found in Parkinson’s Patients

(Ivanhoe Newswire) – Though there is no known cure for Parkinson’s disease, there are means to control the symptoms. Researchers at UCLA may have found a way to determine which patients will experience a more rapid decline in motor function, which is potentially beneficial in developing new therapies and identifying who can benefit the most from early intervention.

In a small study with 233 patients, the researchers discovered that people with Parkinson’s who possess two specific variants of the SNCA gene, a known risk factor for the disease, had a faster progression of motor decline than those without the genes. Higher levels of the a-synuclein protein made from this gene are linked to a greater severity of disease in familial cases of Parkinson’s. For the study, the researchers looked at two risk variants: the REP1 263bp promoter and rs356165. They recruited patients from three Central California counties shortly after they were diagnosed and followed them for an average of 5.1 years.

In analyzing the results, the researchers found that those who carried the REP1 263bp variant had a four-fold higher risk of motor decline. There was an even stronger progression towards motor decline when both of the gene variants were present.

Because doctors cannot currently predict how quickly the patients’ motor functions will deteriorate, this research is critical to pave the way for future endeavors. Additionally, because of the differences in the rates of disease progression, researchers can test potential therapies on those individuals with the genetic variations and receive faster results on the effectiveness of the drugs. Dr. Jeff Bronstein, professor of neurology at the David Geffen School of Medicine at UCLA, was quoted as saying, "…If our results are confirmed, these gene variants can now identify patients who are likely to have faster progression."

In the future, the results need to be replicated on a larger scale to identify other markers, as not all of the patients with genetic variants were fast progressors. Identifying the genetic predictors that cause some patients’ motor functions to decline more quickly could help pinpoint which biological mechanisms to target for therapy, as well as which patients would benefit from early intervention more than others.

Dr. Beate Ritz, vice chair of the department of epidemiology at the UCLA Fielding School of Public Health and the study’s primary investigator was quoted as saying, "…Our findings strongly suggest that a-synuclein and related pathogenic pathways have great promise as potential disease modifying and therapeutic targets.

Source: PloS ONE, May 2012|

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