title: Decreased expression of lysosomal alpha-galactosiase A gene in sporadic Parkinson's disease.
abstract: Parkinson's disease (PD) is a progressive neurodegenerative disease. To date, the causal genes and variants associated with sporadic PD are largely unknown. Accumulating evidence demonstrates that autophagy delivers alpha-syncuclein proteins to lysosome for degradation and dysfunctional autophagy is involved in the PD pathogenesis. We have previously screened a group of lysosomal hydrolases and found that alpha-galactosidase A (GLA) activity is significantly decreased in the peripheral leukocytes of sporadic PD patients. In this study, GLA transcript and protein levels were semi-quantitatively examined. The GLA transcript (P = 0.020) and protein (P = 0.027) levels in the peripheral leukocytes of sporadic PD patients were significantly decreased, compared to age- and sex-matched healthy controls. Furthermore, decreased GLA gene expression levels were strongly associated with sporadic PD (OR 3.33, 95%CI 1.17-9.52, P = 0.024). Therefore, our data suggest that insufficient GLA activity may contribute to the pathogenesis of sporadic PD. The underlying molecular mechanisms remain to be determined.
authors.affiliation: Division of Cardiac Surgery, Jining Medical College Affiliated Hospital, Jining Medical College, 79 Guhuai Road, Jining, Shandong 272029, China.
authors.forename: Guanghua
authors.initials: G
authors.lastname: Wu
authors.forename: Jian
authors.initials: J
authors.lastname: Huang
authors.forename: Xungang
authors.initials: X
authors.lastname: Feng
authors.forename: Aimei
authors.initials: A
authors.lastname: Zhang
authors.forename: Jifeng
authors.initials: J
authors.lastname: Li
authors.forename: Shuchao
authors.initials: S
authors.lastname: Pang
authors.forename: Kejin
authors.initials: K
authors.lastname: Gu
authors.forename: Haixin
authors.initials: H
authors.lastname: Dong
authors.forename: Junping
authors.initials: J
authors.lastname: Zhang
authors.forename: Huijie
authors.initials: H
authors.lastname: Gao
authors.forename: Bo
authors.initials: B
authors.lastname: Yan
mesh_terms: D000368:Aged; D015971:Gene Expression Regulation, Enzymologic; D020022:Genetic Predisposition to Disease; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology*; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D000519:alpha-Galactosidase / Q000235:genetics* / Q000378:metabolism*
chemical_list: D000519:alpha-Galactosidase