Mitochondrial DNA mutations have been increasingly associated with various diseases. An association between the mitochondrial
tRNA gene mutation,
tRNAMet, and
primary hypertension has been suggested. In the present study, the association between the
tRNAMet mutation and the development of
primary hypertension was investigated by assessing clinical and
biological indicators in 800 patients with
primary hypertension. General [gender, age, age of onset, body mass index (BMI) and family history] and clinical data (routine blood counts, blood biochemistry profiles and color Doppler echocardiography) were obtained. Venous blood samples were drawn from all the subjects for the separation of white blood cells (WBCs) and
DNA extraction. Mitochondrial
tRNAMet was amplified using PCR, purified and sequenced; samples identified to have a mutation were sequenced in triplicate for validation. Comparisons were made between 7 hypertensive patients with mutations (0.875%) and 10 age-, gender- and medication‑matched hypertensive patients without mutations (controls). A maternal history of
hypertension was present in 57.1% of patients with
tRNAMet mutations and only 20.0% of patients without mutations. Notably,
tRNAMet mutations were associated with a significantly earlier age of
hypertension onset, decreased red blood cell (RBC) counts and
hemoglobin (Hb) levels and increased total
cholesterol (TC),
triacylglycerol (TG), high‑density
lipoprotein cholesterol (HDL-C) and
glucose levels (all P<0.05). Heart structure and function differences were also assessed between the two groups. In conclusion, mitochondrial
tRNAMet mutations may induce changes in
tRNA structure and function, which contributes to the pathogenesis of
primary hypertension by disturbing blood lipid metabolism, the steady state of blood cells and cardiac structure and function.