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The Glucocerobrosidase E326K Variant Predisposes to Parkinson’s Disease, But Does Not Cause Gaucher’s Disease

Identifieur interne : 000301 ( Pmc/Corpus ); précédent : 000300; suivant : 000302

The Glucocerobrosidase E326K Variant Predisposes to Parkinson’s Disease, But Does Not Cause Gaucher’s Disease

Auteurs : Raquel Duran ; Niccolo E. Mencacci ; Aikaterini V. Angeli ; Maryam Shoai ; Emma Deas ; Henry Houlden ; Atul Mehta ; Derralynn Hughes ; Timothy M. Cox ; Patrick Deegan ; Anthony H. Schapira ; Andrew J. Lees ; Patricia Limousin ; Paul R. Jarman ; Kailash P. Bhatia ; Nicholas W. Wood ; John Hardy ; Tom Foltynie

Source :

RBID : PMC:4208290

Abstract

Background

Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder, Gaucher’s disease (GD), are the strongest known risk factor for Parkinson’s disease (PD). Our aim was to assess the contribution of GBA1 mutations in a series of early-onset PD.

Methods

One hundred and eighty-five PD patients (with an onset age of ≤50) and 283 age-matched controls were screened for GBA1 mutations by Sanger sequencing.

Results

We show that the frequency of GBA1 mutations is much higher in this patient series than in typical late-onset patient cohorts. Furthermore, our results reveal that the most prevalent PD-associated GBA1 mutation is E326K, a variant that does not, when homozygous, cause GD.

Conclusions

Our results confirm recent reports that the mutation, E326K, predisposes to PD and suggest that, in addition to reduced GBA1 activity, other molecular mechanisms may contribute to the development of the disease.


Url:
DOI: 10.1002/mds.25248
PubMed: 23225227
PubMed Central: 4208290

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