Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.

ABSTRACT:

Background

Heterozygous mutations in sarcomere genes in hypertrophic cardiomyopathy (HCM) are proposed to exert their effect through gain of function for missense mutations or loss of function for truncating mutations. However, allelic expression from individual mutations has not been sufficiently characterized to support this exclusive distinction in human HCM.

Methods and results

Sarcomere transcript and protein levels were analyzed in septal myectomy and transplant specimens from 46 genotyped HCM patients with or without sarcomere gene mutations and 10 control hearts. For truncating mutations in MYBPC3, the average ratio of mutant:wild-type transcripts was ≈1:5, in contrast to ≈1:1 for all sarcomere missense mutations, confirming that nonsense transcripts are uniquely uns

SUBMITTER: Helms AS 

PROVIDER: S-EPMC4254656 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature