The enigma of the E326K mutation in acid β-glucocerebrosidase

Mia Horowitz; Metsada Pasmanik-Chor; Idit Ron; Edwin H Kolodny

doi:10.1016/j.ymgme.2011.07.002

The enigma of the E326K mutation in acid β-glucocerebrosidase

Mol Genet Metab. 2011 Sep-Oct;104(1-2):35-8. doi: 10.1016/j.ymgme.2011.07.002. Epub 2011 Jul 12.

Authors

Mia Horowitz¹, Metsada Pasmanik-Chor, Idit Ron, Edwin H Kolodny

Affiliation

¹ Department of Cell Research and Immunology, Tel Aviv University, Ramat Aviv, 69978, Israel. horwitzm@post.tau.ac.il

PMID: 21831682
DOI: 10.1016/j.ymgme.2011.07.002

Abstract

A large number of mutations, and several polymorphisms, have been characterized in the GBA gene, encoding the lysosomal enzyme glucocerebrosidase, the activity of which is impaired in Gaucher disease. In this communication we summarize published and new data concerning biochemical characterization of the E326K amino acid change (1093G>A in the GBA1 cDNA) in tissue culture and its association with Parkinson disease, suggesting it is a disease causing mutation and not merely a polymorphism in the GBA gene.

Publication types

Review

MeSH terms

Amino Acid Substitution / genetics*
Glucosylceramidase / genetics*
Heterozygote
Humans
Mutation / genetics*
Parkinson Disease / genetics
Tissue Culture Techniques

Substances

Glucosylceramidase