title: Analysis of the sarcomere protein gene mutation on cardiomyopathy - Mutations in the cardiac troponin I gene.
abstract: Developments in the molecular genetic studies of cardiomyopathy (CM) have led to discovery of a large number of mutations in the genes encoding the sarcomeric proteins. In this study, comprehensive screening of TNNI3 was performed in 36 consented autopsy cases diagnosed as CM, in order to evaluate the prevalence of gene mutations in sudden death caused by CM. In DCM cases, a new missense mutation Pro16Thr was detected. A single nucleotide polymorphism at -8 position of intron 3 (IVS 3 -8 T>A) was identified, which had a significant difference in allele frequency between DCM and control cases. From these results, it was indicated that this study contribute to genetic based diagnosis, risk stratification and prevention of sudden death caused by CM.
authors.affiliation: Department of Legal Medicine, Kitasato University School of Medicine, 1-15-1 kitasato minami-ku, Sagamihara, Kanagawa 252-0374, Japan. hashimo@med.kitasato-u.ac.jp
authors.forename: Chikako
authors.initials: C
authors.lastname: Murakami
authors.forename: Shigeki
authors.initials: S
authors.lastname: Nakamura
authors.forename: Masamune
authors.initials: M
authors.lastname: Kobayashi
authors.forename: Kazuho
authors.initials: K
authors.lastname: Maeda
authors.forename: Wataru
authors.initials: W
authors.lastname: Irie
authors.forename: Bunta
authors.initials: B
authors.lastname: Wada
authors.forename: Maiko
authors.initials: M
authors.lastname: Hayashi
authors.forename: Chizuko
authors.initials: C
authors.lastname: Sasaki
authors.forename: Naomi
authors.initials: N
authors.lastname: Nakamaru
authors.forename: Masataka
authors.initials: M
authors.lastname: Furukawa
authors.forename: Katsuyoshi
authors.initials: K
authors.lastname: Kurihara
mesh_terms: D000328:Adult; D000368:Aged; D001344:Autopsy; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000209:etiology; D005260:Female; D049429:Forensic Pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D012518:Sarcomeres / Q000235:genetics* / Q000378:metabolism; D017422:Sequence Analysis, DNA; D019210:Troponin I / Q000235:genetics* / Q000378:metabolism
chemical_list: D019210:Troponin I