The enigma of the E326K mutation in acid β-glucocerebrosidase.

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

Journal: Molecular genetics and metabolism 2012;104(1-2):35-8

PMID: 21831682

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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.

Address: Department of Cell Research and Immunology, Tel Aviv University, Ramat Aviv, 69978, Israel. [email protected]

DOI: 10.1016/j.ymgme.2011.07.002

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MeSH Terms: Amino Acid Substitution, Glucosylceramidase, Heterozygote, Humans, Mutation, Parkinson Disease, Tissue Culture Techniques