Genetic variants in mitochondrial tRNA genes are associated with essential hypertension in a Chinese Han population.

Background: Of multiple factors contributing to essential hypertension, mitochondrial variants exhibited the trends for serving as molecular and genetic markers for the disease in last five years. However, previous studies focused on African-American or Caucasian pedigrees, knowledge of mitochondrial tRNA genes and population-based Chinese hypertensives were limited.

Methods: We performed sequence analysis in tRNA genes, hot spots for cardiovascular diseases, in 270 Chinese Han essential hypertensives and 270 controls. Lymphoblastoid cell lines were immortalized by transformation with the Epstein-Barr virus. Rates of oxygen consumption in intact cells were determined with a YSI 5300 oxygraph (Yellow Springs Instruments) on samples, harboring variants in tRNA genes.

Results: There were 26 variants in tRNA genes that were found in hypertensives and these variants were not in controls. Functional analysis found that these variants may lead to deficiencies in tRNA 3' end metabolism and/or impairment of critical subunits of the respiratory chain. Most importantly, the oxygen consumption rate in cells harboring variants T4454C (P=0.0010) and A4263G (P=0.0001) decreased as compared to the average level of control cell lines.

Conclusions: Variants located in mitochondrial tRNA genes may have biologic plausibility to implicate in the pathogenesis of Chinese essential hypertension.