In a study recently published online in the journal Neurology, a group from the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), and the University of Pennsylvania School of Medicine in Philadelphia reported that alterations in the gene that codes for an enzyme called glucocerebrosidase (GBA) may contribute to the development of a relatively common neurodegenerative disease known as dementia with Lewy bodies, or DLB. Lewy bodies are abnormal aggregates of protein that develop inside nerve cells in both DLB and Parkinson's disease. Mutations in the GBA gene had previously been identified as the cause of Gaucher disease, a rare, inherited metabolic disorder.
"This work shows how genetic and genomic research involving rare diseases can help unravel the mysteries of more common disorders," said NHGRI Scientific Director Eric Green, M.D., Ph.D., "Knowledge gained from studying rare diseases not only provides insights into specific medical conditions, it also deepens our understanding of normal cell processes and human biology in general."
DLB is the second most common form of age-related dementia, exceeded only by Alzheimer's disease. At least 5 percent of people age 85 and older are thought to have DLB, and the condition accounts for about one-fifth of all cases of dementia. People affected by DLB often show symptoms of Alzheimer's and Parkinson's disease, but most experts now consider DLB to be a distinct disorder. As is the case for Alzheimer's disease, there currently is no good treatment for DLB.
A research group led by Ellen Sidransky, M.D., a senior investigator in NHGRI's Division of Intramural Research, sequenced DNA from autopsy samples that had been care
Contact: Geoff Spencer
NIH/National Human Genome Research Institute