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Updated: Apr 23, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Assessment of mitochondrial DNA mutations in Chinese family with essential hypertension
Guo-Ju Sun1, Fei He1, Hai-Mu Yao1
1a Department of Cardiology , The First Affiliated Hospital of Zhengzhou University , Zhengzhou , Henan , P.R. China.
Abstract:
Mitochondrial DNA (MtDNA) mutations played an important role in the development of essential hypertension. Mitochondrial tRNA point mutations, caused the failure in tRNA metabolism, responsible for the pathogenesis of this complex disease. In this study, we evaluated the possible role of the 4329C >G mutation in the clinical expression of hypertension in a Chinese family. Analysis of the complete mtDNA sequence variants showed that other mutations may play synergic roles in the phenotypic manifestation of hypertension. In addition, other potential pitfalls were also discussed in this context.
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