title: Molecular basis of canine muscle type phosphofructokinase deficiency.
abstract: Muscle type phosphofructokinase (M-PFK) deficiency is a rare inherited glycogen storage disease in humans that causes exertional myopathy and hemolysis. The molecular basis of canine M-PFK deficiency, the only naturally occurring animal homologue, was investigated. Lack of M-PFK enzyme activity was caused by a nonsense mutation in the penultimate exon of the M-PFK gene, leading to rapid degradation of a truncated (40 amino acids) and therefore unstable M-PFK protein. A polymerase chain reaction-based test was devised to identify M-PFK-deficient and carrier animals. This represents one of only a few inborn errors of metabolism where the molecular defect has been identified in a large animal model which can now be used to develop and assess novel therapeutic strategies.
authors.affiliation: Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104-6010, USA.
authors.forename: B F
authors.initials: BF
authors.lastname: Smith
authors.forename: H
authors.initials: H
authors.lastname: Stedman
authors.forename: Y
authors.initials: Y
authors.lastname: Rajpurohit
authors.forename: P S
authors.initials: PS
authors.lastname: Henthorn
authors.forename: J H
authors.initials: JH
authors.lastname: Wolfe
authors.forename: D F
authors.initials: DF
authors.lastname: Patterson
authors.forename: U
authors.initials: U
authors.lastname: Giger
mesh_terms: D000818:Animals; D001483:Base Sequence; D004195:Disease Models, Animal; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs / Q000235:genetics; D015971:Gene Expression Regulation, Enzymologic; D006008:Glycogen Storage Disease / Q000235:genetics*; D006579:Heterozygote; D008969:Molecular Sequence Data; D009132:Muscles / Q000201:enzymology*; D010375:Pedigree; D010732:Phosphofructokinase-1 / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D017354:Point Mutation; D012333:RNA, Messenger / Q000235:genetics
chemical_list: D012333:RNA, Messenger; D010732:Phosphofructokinase-1