Journal
MOLECULAR GENETICS AND METABOLISM
Volume 91, Issue 2, Pages 195-200Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2007.03.004
Keywords
Gaucher disease; Parkinsonism; risk factor; sporadic parkinson disease; lysosmal enzyme; glucocerebrosidase
Funding
- Intramural NIH HHS [Z01 HG200336-02, Z99 HG999999] Funding Source: Medline
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [Z01HG200336] Funding Source: NIH RePORTER
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Background: An association between glucocerebrosidase, the enzyme deficient in Gaucher disease, and the synucleinopathies has been suggested both by the development of parkinsonism in Gaucher probands and carriers, as well as by the presence of mutations in the gene for glucocerebrosidase (GBA) in different series of subjects with synucleinopathies. In this study, an open access Parkinson repository was used to establish the incidence of GBA alterations in a different ethnic cohort with sporadic Parkinson disease (PD). Methods: The glucocerebrosidase gene was sequenced in samples collected from 92 Chinese Parkinson disease patients from Taiwan along with 92 clinically screened controls, matched for age and ethnicity. Findings: The frequency of GBA mutations among the Chinese PD probands was 4.3%, in contrast to 1.1% in Chinese controls. Mutant alleles identified included two known mutations, L444P and D409H, and two novel mutations, L174P and Q497R. Interpretation: These results, ascertained in subjects from Taiwan collected in a standardized and clinically rigorous open access Parkinson disease repository and screened by direct sequencing of GBA, demonstrate that GBA mutations are also encountered in Chinese subjects with sporadic PD at a higher frequency than many other known PD genes. The study demonstrates that the association of GBA mutations with the development of parkinsonian pathology is not related to ethnic origin. Published by Elsevier Inc.
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