Basis of aldehyde dehydrogenase deficiency in Orientals: immunochemical studies.
While most Caucasians have two main isozymes of liver aldehyde dehydrogenase, in about 50% of Orientals the ALDH I isozyme is missing. This isozyme, which has a faster electrophoretic mobility, is predominantly present in mitochondria and has a relatively low Km for acetaldehyde. The inherent deficiency of ALDH I is responsible for the impaired acetaldehyde oxidation leading to facial flushing and other cardiovascular symptoms of alcohol sensitivity commonly observed in Japanese and Chinese. Antibodies raised against apparently homogeneous liver ALDH I and ALDH II isozymes did not show an immunological similarity between the two isozymes which do not share common subunits. While erythrocyte ALDH II is also immunologically distinct from hepatic ALDH I, it showed an immunological similarity with hepatic ALDH II. On isoelectric focusing in agarose gel followed by immunoelectrophoresis, at least 4 components with an anti-ALDH I antibody were detected in extracts from Caucasian and Oriental livers. In Japanese livers deficient in ALDH I activity, the prominent ALDH component was missing. Apparently, more than one gene is responsible for the synthesis of ALDH isozymes reacting with an antibody against ALDH I. A deletion in one of the genes may be responsible for the loss of ALDH I enzyme activity and altered antigenic properties. However, at this stage, a point mutation in a structural gene coding for ALDH I resulting in a defective protein with altered electrophoretic and enzymatic properties is not ruled out.
D000444:Aldehyde Dehydrogenase / Q000172:deficiency* / Q000302:isolation & purification; D044466:Asian People; D003429:Cross Reactions; D006801:Humans; D007123:Immunoelectrophoresis, Two-Dimensional; D007525:Isoelectric Focusing; D007527:Isoenzymes / Q000172:deficiency* / Q000302:isolation & purification; D008099:Liver / Q000201:enzymology*; D044465:White People
D007527:Isoenzymes; D000444:Aldehyde Dehydrogenase