Molecular Detection of Mutations in mtCOX1 Gene in Iraqi Patients with Aortic and Mitral Valve Diseases

Abstract

Many evidences suggest that aortic and mitral valve diseases are not a direct result of aging but may be linked to various genetic factors. This study was designed to determine the potential role of mutations in certain mitochondrial genes and their association with aortic and mitral valve disease. The study included 31 patients , 16 with aortic valve defect and 15 mitral valve patients in addition to 20 healthy volunteers as comparative group. The results of the molecular analysis showed that there were 11 mutations of those with an aortic valve, seven silent mutations and two mutations recorded for the first time in the present study at the sites m.6922 G>T; p.W340L, m.6690 G> C; p.G263R and deletion mutation at m.6936 delA site recorded at the clinical variation site with accession number SCV000845763 and one insertion mutation at m.6908 insG site and registered with accession number SCV000845764. The results of the study recorded 12 mutations of the mitral valve eight silent mutations and the other significant mutations at sites m.6253 T>C; p.M117T, m.6366G>A; p.V155I, m.6690G> C; p.G263R and deletion mutation m.6607 insT site registered with the accession number SCV000852048.