title: Substitutions of three amino acids in human heart/muscle type carnitine palmitoyltransferase I caused by single nucleotide polymorphisms.
abstract: Heart/muscle type carnitine palmitoyltransferase I (M-CPTI) catalyzes the rate-limiting step of mitochondrial long-chain fatty acid (LCFA) oxidation in muscle and adipose tissue. Three replacements of nucleotides resulting in missense mutations of I66V, S427C, and E531K were observed in the M-CPTI gene of patients showing abnormal fatty acid metabolism. These nucleotide replacements were found to be common single nucleotide polymorphisms (SNPs) of this gene and not specific to patients. The question of whether these missense mutations caused by SNPs alter the functional properties of M-CPTI remains unanswered. Thus, we examined whether these missense mutations are associated with any changes in the enzymatic properties of M-CPTI. None of these mutations was found to cause remarkable alteration of its enzymatic properties. Based on the comparison of amino acid sequences of M-CPTI among different animal species, the roles of these amino acids in the enzyme are discussed.
authors.affiliation: Faculty of Pharmaceutical Sciences, University of Tokushima, Shomachi-1, Tokushima, Japan. yamazaki@ph.tokushima-u.ac.jp
authors.forename: Naoshi
authors.initials: N
authors.lastname: Yamazaki
authors.forename: Taisuke
authors.initials: T
authors.lastname: Matsuo
authors.forename: Miho
authors.initials: M
authors.lastname: Kurata
authors.forename: Makiko
authors.initials: M
authors.lastname: Suzuki
authors.forename: Takehisa
authors.initials: T
authors.lastname: Fujiwaki
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Terada
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Shinohara
mesh_terms: D019943:Amino Acid Substitution; D000818:Animals; D019556:COS Cells; D002334:Carnitine O-Palmitoyltransferase / Q000235:genetics* / Q000378:metabolism; D002522:Chlorocebus aethiops; D005227:Fatty Acids / Q000235:genetics / Q000378:metabolism; D006801:Humans; D050356:Lipid Metabolism / Q000235:genetics; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D008929:Mitochondria, Heart / Q000235:genetics / Q000378:metabolism; D020125:Mutation, Missense; D009206:Myocardium / Q000201:enzymology; D010084:Oxidation-Reduction; D020641:Polymorphism, Single Nucleotide
chemical_list: D005227:Fatty Acids; D002334:Carnitine O-Palmitoyltransferase