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Abstract

MITOCHONDRIAL DNA VARIANTS FROM ATP8, ATP6 GENES IN PATIENTS CARDIAC VALVES

Ali Jumaah Al-Hussona* and Faizah Abdul Wahab Ahmed

ABSTRACT

The mitochondria diseases refer to a large group of disorders, that lead to a defect in energy production due to defect in the oxidative phosphorylation chain, which responsible for generating most cellular energy. Several evidence suggests mutations occurring in the encoded regions of the mitochondrial genome may be one of the causes of heart valves dysfunction. It was the sequence and analysis of the sequence mtATP8 gene of the patients with aortic valve. Appear a Novel mutation in site m.8473T> C, p.P36P. As for those patients with mitral valve disease were diagnosed with four mutations: m.8428C>T, p.F21F. m.8460A>G, p.N32S, m.8468C>T, p.L35L, m.8472C>T, p.P36L. The study diagnosed the presence of four mutations in mtATP6 gene in patients with aortic valve, m.8602T>C, p.F26L, m.8978T>C, p.I151T, m.8634T>C, p.Y36Y, m.8950A>G, p.V142I, the variable sites that have appeared in patients with mitral valve were: m.8655C>T, p.I43I, m.8684C>T, p.T53R, m.8836G>A, p.M104V, m.8969G>A, p.S148N, m.9042C>T, p.H172H, and the study identified the presence of common mutations in the gene mtATP6 for both disease case are: m.8654T>C,p.I43T, m.8697G>A,p.M57M, m.8701A>G, p.T59A, m. 8812A>G, p.T96A, m.8860G>A, p.T112A.

Keywords: mtATP8, mtATP6, Cardiac valve, mitochondrial DNA


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