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Genetic analysis of lysosomal alpha-galactosidase A gene in sporadic Parkinson's disease.

Abstract：

:Parkinson's disease (PD) is a progressive neurodegenerative disease. Majority of PD cases are sporadic, resulting from interaction of genetic and environmental factors. Accumulating evidence indicates that autophagy, which delivers alpha-synuclein to lysosomes for degradation, is involved in the PD pathogenesis. Some lysosomal hydrolases, such as glucocerebrosidase gene and ATP13A2, a lysosomal ATPase gene, have been implicated in PD. We have previously screened the activities of a group of lysosomal hydrolases in sporadic PD patients and found that alpha-galactosidase A (GLA) activities are significantly decreased. In this study, we analyzed GLA gene in sporadic PD patients by sequencing its promoter and exon regions. One single-nucleotide polymorphism (SNP) in the promoter region, rs3027580 (NG_007119.1:g.4292G>C), and two SNPs in the GLA 5'-untranslated region, rs2071225 (NM_000169.2:c.-10C>T) and rs3027585 (NM_000169.2:c.-12G>A), were identified with similar frequencies in sporadic PD patients and healthy controls. A novel variant (NG_007119.1:g.4488C>G) within the promoter region, at the -573 site upstream of the translation start codon (ATG), was found in one male PD patient, but not in female PD patients or healthy controls. Our data suggest that the sequence variant may affect GLA gene expression by altering transcription factor binding sites, contributing to the pathogenesis of sporadic PD.

journal_name

Neurosci Lett

journal_title

Neuroscience letters

authors

Wu G,Pang S,Feng X,Zhang A,Li J,Gu K,Huang J,Dong H,Yan B

doi

10.1016/j.neulet.2011.05.238

subject

Has Abstract

pub_date

2011-08-01 00:00:00

pages

31-5

issue

1

eissn

0304-3940

issn

1872-7972

pii

S0304-3940(11)00874-3

journal_volume

500

pub_type

杂志文章

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