Population and biochemical genetics of the human mitochondrial malic enzyme

The phenotypic variation of the mitochondrial malic enzyme (MEM) was examined in 121 brains and 46 heart tissue samples from the population of north-east England. There was no difference in gene frequency distribution between sexes and the two tissues. However, a significant variation has been observed in males compared with a Scottish study. The three common phenotypes of brain were partially purified on a DEAE Sephadex column. The kinetics, heat stability and dicumarol inhibition studies show no biochemical advantage for any of the phenotypes in human brain. The extensive polymorphism of MEM suggests a possible, yet unknown, selective factor for the spread of this polymorphism. With the existing evidence of regional and racial differences, the role of random genetic drift cannot be ruled out.