Gene mutations responsible for human erythrocyte AMP deaminase deficiency in Poles.

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In human, there are three fundamental tissue-specific isozymes of AMP deaminase (EC 3.5.4.6),1,2 and three different genes for the isozymes have been identified:3–6 AMPD1 encoding isozyme M found in skeletal muscle, AMPD2 encoding L in liver, and AMPD3 encoding erythrocyte AMP deaminase (El). The erythrocyte AMP deaminase deficiency that we initially identified,7,8 is clinically asymptomatic. Erythrocyte ATP contents in the complete deficiency are about 150% of normal,8 which can be explained by impairment of the degradation of AMP by way of AMP deaminase. The inheritance of the deficiency was autosomal recessive and the heterozygote frequency was estimated at about 1/30 in Japan, Korea and Taiwan.7,8 The deficiency was also reported in Europe,9 and the frequency in northern Poland was almost the same as that in east Asia. The nonsense mutation on AMPD1 responsible for human myoadenylate deaminase (muscle type AMP deaminase) deficiency was found in 12% of Caucasians and 19% of African-Americans, whereas none of the 106 Japanese subjects surveyed has the mutant allele.10 Human erythrocyte AMP deaminase deficiency in Japanese is associated with 75% of the same mutation (R573C) and 25% of other heterogeneous mutations on AMPD3.11,12 It is of interest to know whether the same mutation occurs in Poles, since their frequency of the enzyme deficiency was not significantly different from Japanese.KeywordsPolish SampleDirect Sequencing AnalysisComplete DeficiencyHeterogeneous MutationHeterozygote FrequencyThese keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.