Mutation of Delta-Sarcoglycan Gene in Dilated Cardiomyopathy Patients in North India Population

Royana Singh

Abstract


Aim: DCM is a major cause of morbidity and mortality which has a prevalence of one case out of 2500 individuals with an incidence of 7/100,000/year. The chief causes of DCM are heterogeneous including myocarditis, drug toxicity, and ischemia-induced, metabolic, mitochondrial, and genetic abnormalities. The study aims at the illustration of the mutation of the Delta sarcoglycan gene as a causative factor for DCM.

Methods: Primers were designed for the coding region of δ-sarcoglycan gene. The assessment of DCM was based on strict diagnostic criteria requiring the presence of depressed left ventricular systolic function, associated with left ventricular dilation. DNA was extracted from peripheral blood samples. The PCR was carried out followed by DNA sequencing.

Result: Frame shift (deletion of T at position 95) and missense mutations (V140G) and (V156L) in the delta sarcoglycan was observed in patients with dilated cardiomyopathy.

Conclusion: Novel mutations in the δ-sarcoglycan gene maybe associated with DCM in north Indian population.


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