Objectives Hypertension is a very important risk factor for cardiac vascular disease. Our previous study showed that mitochondrial DNA mutations are associated with cardiovascular disease, including hypertension.
Methods In this study we first did systematically analyse the whole mitochondrial DNA and the clinical, genetic and molecular characterisation of 140 Chinese hypertension and 124 healthy controls.
Results The data showed that the cerebrovascular disease and hyperlipidemia of the HTN were higher than that of the control (P < 0.05). The laboratory test showed the HDL-cholesterol level of the HTN was lower than that of the control group (P = 0.007). The genetic segregation analysis showed that during the 140 hypertension patients, there were 34 hypertension patients had the maternal characteristic. The onset-age, potassium and HDL-cholesterol of the maternal hypertension patients were lower than that of the non-maternal patients (P < 0.05). Sequence analysis of entire mitochondrial DNA showed that the 107 nonsynonymous variants only presented in the hypertension not in the healthy control, including 4 in the ND1, 3 in the ND2, 1 in the ND3, 4 in the ND4, 4 in the ND5, 4 in the ND6, 1 in the COI, 1 in the COII, 2 in the ATPase 8, 3 in the ATPase 6, 16 in the Cytb and 77 in the tRNA. All these points not detected in the healthy control, were associated with hypertension.
Conclusions These findings may provide the new insights into the understanding of pathophysiology and valuable information for management and treatment of maternally inherited hypertension. Future research should further explore the emerging link among hypertension, mitochondrial dysfunction, and their cause/effect relationship.