1. Volume 120, Issue 6, Pages 1468-1474 (May 2001)
Homozygosity for alanine in the mitochondrial targeting sequence of superoxide dismutase and risk for severe alcoholic liver disease 
Françoise Degoul, Angela Sutton, Abdellah Mansouri, Claude Cepanec, Dominique Valla, Dominique Pessayre, Bernard Fromenty 
Gastroenterology 
Volume 120, Issue 6, Pages (May 2001)
DOI: /gast
Copyright © 2001 American Gastroenterological Association Terms and Conditions

2. Fig. 1
Determination of the genotype by sequencing and/or restriction analysis. (A) Sequencing. The presence of only a cytosine, both a cytosine and a thymine, or only a thymine at position 1183 of the MnSOD gene allows clear distinction of Ala/Ala homozygotes, Ala/Val heterozygotes, and Val/Val heterozygotes. (B) Restriction analysis of the DNA from the same patients. The polymerase chain reaction product is either undigested (UD) or digested (D) with BsaW1, which only cuts DNA when a thymine is present at position 1183 of the MnSOD gene. This restriction enzyme does not cut the 267–base pair amplification fragment of Ala/Ala homozygotes, cuts half of this product in Ala/Val heterozygotes, and totally cuts it (into a 183–base pair and 84–base pair fragments) in Val/Val homozygotes.
Gastroenterology  , DOI: ( /gast )
Copyright © 2001 American Gastroenterological Association Terms and Conditions

3. Fig. 2
Suggested relationships between genetic factors, alcohol effects, and liver lesions. Ethanol metabolism may indirectly cause macrovacuolar steatosis and ROS formation (see Discussion). ROS may contribute, in part, to microvesicular steatosis (through mitochondrial damage) and may fully account for alcoholic hepatitis and cirrhosis (through ROS-induced lipid peroxidation and cytokine induction). Genetic polymorphisms affecting central nervous system (CNS) function may modulate ethanol consumption, whereas alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH) polymorphisms influence both ethanol metabolism and ethanol consumption. The MnSOD dimorphism may modify mitochondrial ROS formation, whereas tumor necrosis factor α (TNF-α) and interleukin 10 (IL-10) promoter polymorphisms may modulate cytokine production.
Gastroenterology  , DOI: ( /gast )
Copyright © 2001 American Gastroenterological Association Terms and Conditions