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Researchers Identify Genetic Factor Related to LBD

In July 2006, researchers found that an alteration in a particular gene seems to correlate with the occurrence of Lewy body disease. The gene in question codes for an enzyme called glucocerebrosidase (or GBA). The GBA gene had previously been implicated in a rare illness called Gaucher disease, which is an inherited metabolic disorder. It now appears that alterations in the same gene correlate with Lewy body disease, a common dementia.

The research was carried out by scientists at the National Human Genome Research Institute (NHGRI, a part of the National Institutes of Health) and the University of Pennsylvania School of Medicine. When the DNA from LBD patients was sequenced, 23% (i.e., 8 of 35 patients) had a mutation of the GBA gene. That is nearly 40 times higher than the mutation rate in the general population. Apparently, those with Gaucher disease have two mutated copies of the GBA gene, whereas those with LBD sometimes have one mutated copy and one normal gene.

This finding may help researchers study LBD at a cellular level.

You can read the press release at the NHGRI Web site. The abstract of the scientific article published in the journal Neurology has a link to the full text of the study.

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