PRKCSH GAG trinucleotide repeat is a mutational target in gastric carcinomas with high-level microsatellite instability.

摘要

We read with great interest the article by Waanders et al. dealing with the role of PRKCSH -hepato-cystin mutations on protein structure and function (1). In their study the authors depicted the location of mutations distributed over the entire structure of hepatocystin. Interestingly, no mutations were found in the glutamic acid stretch encoded by a polymorphic guanine-adenine-guanine (GAG) trinucleotide repeat located in exon 11 of the PRKCSH gene.In the light of evidence for triplet alterations as causal factor in several disease (2) and as PRKCSH is involved in neuronal signal transduction (3, 4), some authors speculated the trinucleotide repeat length polymorphism involvement in Familial Hemiplegic Migraine and Episodic Ataxia type 2 (5). The trinucleotide repeat sequence was also characterized as a potential candidate gene for maniac depressive illness (6). Actually, no evidence for a causative alteration was found in the examined diseases.