Mitochondrial dysfunction caused by m. 2336T> C mutation with hypertrophic cardiomyopathy in cybrid cell lines
Hypertrophic cardiomyopathy (HCM), affecting approximately 1 in 500 in the general
population, is the most prominent cause of sudden heart disease-related mortality in the
young. Mitochondrial DNA (mtDNA) mutations are among the primary causes of HCM. We
previously identified a novel m. 2336T> C homoplasmic mutation in the mitochondrial 16S
rRNA gene (MT-RNR2) in a Chinese maternally inherited HCM family. However, the
molecular mechanisms by which m. 2336T> C mutation contributes to HCM remain elusive …
population, is the most prominent cause of sudden heart disease-related mortality in the
young. Mitochondrial DNA (mtDNA) mutations are among the primary causes of HCM. We
previously identified a novel m. 2336T> C homoplasmic mutation in the mitochondrial 16S
rRNA gene (MT-RNR2) in a Chinese maternally inherited HCM family. However, the
molecular mechanisms by which m. 2336T> C mutation contributes to HCM remain elusive …