The Mitochondrial tRNA < sup > Asp < /sup > T7561C, tRNA < sup > His < /sup > C12153T, and A12172G Mutations May Be Associated with Essential Hypertension in a Han Chinese Pedigree

Conclusions: Mitochondrial T7561C, C12153T, and A12172G mutations may lead to the failure in tRNAs metabolism and cause mitochondrial dysfunction that is responsible for hypertension. However, the homoplasmy form of mt-tRNA mutations, incomplete penetrance of hypertension suggests that T7561C, C12153T, and A12172G mutations are insufficient to produce the clinical phenotype; hence, other risk factors such as environmental factors, nuclear genes, and epigenetic modifications may contribute to the phenotypic manifestation of maternally inherited hypertension in this Chinese pedigree.Hum Hered 2022;87:51 –59
Source: Human Heredity - Category: Genetics & Stem Cells Source Type: research