NEW YORK (Reuters Health) - Mutations in the glucocerebosidase gene (GBA) appear to increase the risk of idiopathic Parkinson’s disease, according to findings of study involving Ashkenazi Jews.
Previous reports have shown type 1 Gaucher’s disease, which is caused by certain GBA mutations, is associated with parkinsonism. However, the role of GBA mutations in idiopathic Parkinson’s disease was unclear.
The present study, reported in the November 4th issue of The New England Journal of Medicine, involved 99 Ashkenazi patients with idiopathic Parkinson’s disease, 74 with Alzheimer’s disease, and 1543 healthy controls.
Although type 1 Gaucher’s disease is highly prevalent among Ashkenazi Jews, none of the study subjects had signs or symptoms of the disorder, Dr. Ruth Gershoni-Baruch of Rambam Medical Center in Haifa, Israel, and colleagues report. The subjects were screened for six GBA mutations that are most often seen in Ashkenazi Jews.
About 31% of Parkinson’s patients had one or two mutant GBA alleles, the investigators point out. In contrast, the rates in the Alzheimer’s disease and healthy control groups were much lower, just 4.1% and 6.2%, respectively.
The authors found that Parkinson’s patients were 10.8- and 7.0-times more likely to be carriers of Gaucher’s disease than Alzheimer’s disease patients and healthy controls, respectively. Further analysis in the Parkinson’s group revealed that carriers of the disease were about 4 years younger, on average, than non-carriers (p = 0.04).
“The clinical implications of our findings and those of other studies that are soon to be completed should affect the treatment options available to patients with Parkinson’s disease,” the researchers state.
In a related editorial, Dr. Mel B. Feany, from Harvard Medical School in Boston, comments that “further work is required to determine the mechanism by which altering a single copy of the glucocerebrosidase gene influences the risk of Parkinson’s disease.”
Source: N Engl J Med 2004;351:1937-1940,1972-1977. [ Google search on this article ]
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