Presence of mutation m.14484T>C in a Chinese family with maternally inherited essential hypertension but no expression of LHON

► Presence of m.14484T>C in a Chinese family with essential hypertension but no LHON. ► The arterial stiffness of members carrying m.14484T>C was significantly increased. ► m.14484T>C caused mitochondrial dysfunction in cells from affected members. ► Mitochondrial DNA mutation is involved in essential hypertension. ► Patients with primary LHON mutation should undergo evaluation of blood pressure.