Researchers uncover genetic clues to a common form of age-relate...( known as synucleinopathies which are ...)

Researchers uncover genetic clues to a common form of age-related dementia

known as synucleinopathies, which are characterized by abnormal aggregates of a protein called alpha-synuclein within brain and other neural cells. The three synucleinopathies examined in the study were DLB, Parkinson's disease and multiple system atrophy.

Researchers found GBA mutations in the brain tissue of eight of the 35 cases of DLB. Only one of 28 patients with "classic" Parkinson's disease had a GBA alteration, while no mutations were found among the 12 patients with multiple system atrophy.

The results may offer intriguing new avenues for exploring the basic causes of a complex disease at the cellular level. However, the researchers emphasized that more work and larger groups of samples are needed to confirm these associations and determine exactly how GBA alterations may contribute to the accumulation of alpha-synuclein in neuronal cells.

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Contact: Geoff Spencer
spencerg@mail.nih.gov
301-402-0911
NIH/National Human Genome Research Institute
16-Jul-2006

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