Genetic variations of β-MYH7 in hypertrophic cardiomyopathy and dilated cardiomyopathy.

ABSTRACT:

Context

Hypertrophic cardiomyopathy (HCM) is known to be manifested by mutations in 12 sarcomeric genes and dilated cardiomyopathy (DCM) is known to manifest due to cytoskeletal mutations. Studies have revealed that sarcomeric mutations can also lead to DCM. Therefore, in the present study, we have made an attempt to compare and analyze the genetic variations of beta-myosin heavy chain gene (β-MYH7), which are interestingly found to be common in both HCM and DCM. The underlying pathophysiological mechanism leading to two different phenotypes has been discussed in this study. Till date, about 186 and 73 different mutations have been reported in HCM and DCM, respectively, with respect to this gene.

Aim

The screening of β-MYH7 gene in both HCM and DCM has revealed some common g

SUBMITTER: Tanjore R 

PROVIDER: S-EPMC2955954 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature