Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease

Shira G. Ziegler, Michael J. Eblan, Usha Gutti, Kathleen S. Hruska, Barbara K. Stubblefield, Ozlem Goker-Alpan, Mary E. LaMarca, Ellen Sidransky

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)195-200
Number of pages6
JournalMolecular genetics and metabolism
Volume91
Issue number2
DOIs
StatePublished - Jun 2007
Externally publishedYes

Keywords

  • Gaucher disease
  • Glucocerebrosidase
  • Lysosmal enzyme
  • Parkinsonism
  • Risk factor
  • Sporadic Parkinson disease

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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