• Ye Fu, Pan Jing, Lina Yao, Huajun Wang, and Chengjie Zhou.
• Intensive Care Unit, the Affiliated People's Hospital of Ningbo University, Road 251, Ningbo, 315100, Zhejiang, China.
• Ir J Med Sci. 2023 Apr 1; 192 (2): 615623615-623.

BackgroundEssential hypertension (EH) was associated with mitochondrial tRNA mutations.AimsThis study was designed to assess the association between EH and mitochondrial dysfunction.MethodsA total of 30 individuals from two different Chinese families exhibit maternally inherited EH were assessed for genetic, clinical, and biochemical phenotypes pertaining to EH and mitochondrial functionality. These analyses included assessments of tRNALeu(UUR) 3261A > G mutation status, mitochondrial membrane permeability, mitochondria-associated ATP and reactive oxygen species (ROS) generation, and electron transport chain functionality.ResultsEH was detected in 6 total analyzed members of the two families assessed in the present study, with its initial age of onset and presentation varying among patients. These patients with EH exhibited the tRNALeu(UUR) 3261A > G mutation and were of the B5 and D4 Eastern Asian mitochondrial haplogroups. This 3261A > G mutation was predicted to result in disruption of normal tRNALeu(UUR) activity owing to the destabilization of conserved base pairing (30A-40U). Consistent with this prediction, we found that cybrid cell lines exhibiting this 3261A > G mutation exhibited a ~49.05% decrease in baseline tRNALeu(UUR) levels. These cells additionally exhibited ~44.81% reductions in rates of mitochondrial translation.ConclusionsTo facilitate future molecular diagnosis, the 3261A > G mutation should be included in the list of hereditary risk factors. Our findings will aid in the counseling of EH families.© 2022. The Author(s), under exclusive licence to Royal Academy of Medicine in Ireland.

13 keywords...

hide…