Open AccessGenetic variations of β-MYH7 in hypertrophic cardiomyopathy and dilated cardiomyopathy
Author(s) -
Reena R. Tanjore,
Advithi Rangaraju,
Shivani Vadapalli,
Sushant Remersu,
Narsimhan Calambur,
Pratibha Nallari
Publication year - 2010
Publication title -
indian journal of human genetics
Language(s) - English
Resource type - Journals
eISSN - 0971-6866
pISSN - 1998-362X
DOI - 10.4103/0971-6866.69348
Subject(s) - myh7 , hypertrophic cardiomyopathy , dilated cardiomyopathy , genetics , biology , gene , single strand conformation polymorphism , phenotype , myosin , gene mutation , mutation , medicine , heart failure , gene isoform , microbiology and biotechnology , biochemistry
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.