Homozygosity for alanine in the mitochondrial targeting sequence of superoxide dismutase and risk for severe alcoholic liver disease

• Published in: Gastroenterology (New York, N.Y. 1943) Vol. 120; no. 6; p. 1468
• Main Authors: Degoul, F, Sutton, A, Mansouri, A, Cepanec, C, Degott, C, Fromenty, B, Beaugrand, M, Valla, D, Pessayre, D
• Format: Journal Article
• Language: English
• Published: United States 01.05.2001
• Subjects: Adult; Aged; Alanine - genetics; Female; Genetic Predisposition to Disease; Genotype; Homozygote; Humans; Liver Diseases, Alcoholic - genetics; Male; Middle Aged; Mitochondria - metabolism; Oxidation-Reduction; Reactive Oxygen Species; Risk Factors; Superoxide Dismutase - genetics

For similar ethanol consumption, some subjects only develop macrovacuolar steatosis whereas others develop severe liver lesions. A genetic dimorphism encodes for either alanine or valine in the mitochondrial targeting sequence of manganese superoxide dismutase and could modulate its mitochondrial im...