title: Phosphofructokinase deficiency: recent advances in molecular biology.
abstract: Phosphofructokinase (PFK) plays a major role in glycolysis. Deficiency of PFK-M is characterized by muscle weakness due to fuel crisis in exercising muscles. To elucidate the gene defect of PFK-deficient patients, we have cloned and determined the complete structure and transcription mechanism of human PFK-M mRNA and gene. Molecular defects were investigated in three unrelated Japanese family cases. The first case was characterized by a point mutation at the donor site of intron 15 of the PFK-M gene. Cryptic splicing resulted in a 25 amino acid truncation in the patient's PFK-M. The second case possessed a point mutation at the donor site of intron 19, resulting in the skipping of exon 19 and the truncation of 55 amino acids. In the third case, a missense mutation was identified in the coding region. The review of an updated mutation repertoire indicates the heterogeneity of the molecular mechanism of the disease.
authors.affiliation: Second Department of Internal Medicine, Osaka University Medical School, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nakajima
authors.forename: T
authors.initials: T
authors.lastname: Hamaguchi
authors.forename: T
authors.initials: T
authors.lastname: Yamasaki
authors.forename: S
authors.initials: S
authors.lastname: Tarui
mesh_terms: D000818:Animals; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D001411:Geobacillus stearothermophilus / Q000235:genetics; D006003:Glycogen / Q000378:metabolism; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009135:Muscular Diseases / Q000201:enzymology* / Q000235:genetics*; D010732:Phosphofructokinase-1 / Q000172:deficiency* / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism; D011817:Rabbits
chemical_list: D012333:RNA, Messenger; D006003:Glycogen; D010732:Phosphofructokinase-1