Molecular biological approaches to the mechanism of myogenic hyperuricemia: analysis of the primary structure and the genomic structure of muscle - type isozyme of human phosphofructokinase

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Myogenic hyperuricemia is a newly identified patholo gic state in the patients with muscle phosphofructokinase (PFK) deficiency. We consider that impaired glycolysis leads to the increased degradation of adenine nucleotides in the exercising muscles of the patients. In this study, we examined the primary structure of human muscle PFK by cDNA cloning. Genomic structure of this isozyme was also analyzed through the isolation of its genomic clone. Human muscle PFK consisted of 779 amino acid residues with a molecular mass of 85kD. Structural homology between human and rabbit muscle PFK primary structure was 96%. Analysis of a partial genomic clone revealed that the size of exons and boundaries with introns were highly conserved as compared with those reported for rabbit muscle PFK gene.
Japanese Society of Gout and Nucleic Acid Metabolismの論文