Manganese superoxide dismutase V16A single-nucleotide polymorphism in the mitochondrial targeting sequence is associated with reduced enzymatic activity in cryopreserved human hepatocytes.

Abstract excerpt

Mitochondrial manganese superoxide dismutase (MnSOD), encoded by the SOD2 gene, represents a major cellular defense against environmental carcinogens that cause oxidative stress. Two single-nucleotide polymorphisms -9 T>C (V16A in the MnSOD mitochondrial targeting sequence) and -102 C>T (in the SOD2 promoter sequence) modify risk toward various types of malignancies and overall survival. Since little is known...

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