07.07.2014 - (idw) Deutsches Zentrum fr Neurodegenerative Erkrankungen e.V. (DZNE) People whose genome carries certain variations have a particularly high risk of developing Parkinson's disease. In particular, genetic variants in a gene referred to as GBA1 (glucocerebrosidase) are associated to an increased risk for Parkinsons. Researchers of the German Center for Neurodegenerative Diseases (DZNE) and the Hertie Institute for Clinical Brain Research have now pinpointed the consequences that genetic variations in GBA1 have on neurons consequences that had been largely undetermined to date. Using stem cells, they found that mutations affecting GBA1 impair calcium metabolism and the cells garbage disposal that normally digests and recycles defective substances including alpha-synuclein, the protein that accumulates in the brain of patients suffering from Parkinsons. This research shows a link between alterations in the GBA1 gene and cellular dysfunctions in Parkinsons disease for the first time. It also suggests potential targets for drugs and biomarkers that could be useful for diagnosis. The study is published in the journal Nature Communications. In people suffering from Parkinsons, brain cells that are supposed to produce a neurotransmitter called dopamine, die off over time, making it difficult for these patients to control their movements. They may also suffer … Continue reading
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