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Selective loss of glucocerebrosidase activity in sporadic Parkinson's disease and dementia with Lewy bodies.

著者 Chiasserini D , Paciotti S , Eusebi P , Persichetti E , Tasegian A , Kurzawa-Akanbi M , Chinnery PF , Morris CM , Calabresi P , Parnetti L , Beccari T
Mol Neurodegener.2015 Mar 27 ; 10(1):15.
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Lysosomal dysfunction is thought to be a prominent feature in the pathogenetic events leading to Parkinson's disease (PD). This view is supported by the evidence that mutations in GBA gene, coding the lysosomal hydrolase β-glucocerebrosidase (GCase), are a common genetic risk factor for PD. Recently, GCase activity has been shown to be decreased in substantia nigra and in cerebrospinal fluid of patients diagnosed with PD or dementia with Lewy Bodies (DLB). Here we measured the activity of GCase and other endo-lysosomal enzymes in different brain regions (frontal cortex, caudate, hippocampus, substantia nigra, cerebellum) from PD (n = 26), DLB (n = 16) and age-matched control (n = 13) subjects, screened for GBA mutations. The relative changes in GCase gene expression in substantia nigra were also quantified by real-time PCR. The role of potential confounders (age, sex and post-mortem delay) was also determined.
PMID: 25881142 [PubMed - as supplied by publisher]
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