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Genetic analysis in infantile dilated cardiomyopathy and ventricular noncompaction 〜analysis of cytoskeletal protein genes〜

Research Project

Project/Area Number 17591072
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionUniversity of Toyama

Principal Investigator

ICHIDA Fukiko  University of Toyama, Faculty of Medicine, Associate Professor, 大学院医学薬学研究部, 准教授 (30223100)

Co-Investigator(Kenkyū-buntansha) MATSUOKA Rumiko  Tokyo Women's Medical College, Assistant Professor, 医学部, 講師 (50120051)
NISHIKAWA Toshiro  Tokyo Women's Medical College, Associate Professor, 医学部, 准教授 (50120019)
JEFFREY A Towbin  Baylor College of Medicine, Professor
Project Period (FY) 2005 – 2006
Project Status Completed (Fiscal Year 2006)
Budget Amount *help
¥3,600,000 (Direct Cost: ¥3,600,000)
Fiscal Year 2006: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 2005: ¥3,000,000 (Direct Cost: ¥3,000,000)
Keywordsdilated cardiomyopathy / ventricular noncompaction / X-linked / autosomal dominant / cytoskeletal protein gene / LDB3 / G4.5 / DTNA
Research Abstract

Left ventricular noncompaction (LVNC) is a cardiomyopathy which represents the persistence of numerous excessively prominent ventricular trabeculations and deep intertrabecular recesses. To date, the etiology of this disorder is postulated to be caused by an arrest of the normal process of intrauterine endomyocardial morphogenesis. Although LVNC has only been recognized as a unclassified cardiomyopathy, two forms of this anomaly have been described, isolated LVNC which occurs in the absence of other cardiac anomalies and nonisolated LVNC in which similar myocardial anomaly is frequently reported in association with congenital heart diseases. Clinical manifestations in LVNC are highly variable, ranging from no symptoms to arrhythmias, heart failure, cardiac transplantation and dead. This study was performed to investigate Japanese LVNC patients for disease-causing mutations in a series of selected candidate genes. DNA was isolated from the peripheral 103 patients including 44 cases from … More 20 families and 59 sporadic cases. DNA samples were screened for mutations in the genes encoding G4.5 (TAZ), α-dystrobrevin (D7NA), α1-syntrophin (STNA1), FK506 Binding Protein 1A (FKBP1A or FKPB12:FKBP 1A), and LIM Domain Binding protein 3 (Cypher/ZASP:LDB3), using single-strand conformational polymorphism analysis (SSCP) and DNA sequencing. DNA variants were identified in 17 of the 103 patients, including 15 cases from 4 families and 2 sporadic cases. A splice acceptor mutation of intron 8 in TAZ (IVS8-1G>C) was identified in one family with isolated LVNC, resulting in deletion of exon 9 from mRNA. In a sporadic case of isolated LVNC and Barth syndrome (BTHS), a 158insC in exon 2 of TAZ resulting in a frame-shift mutation was identified. A 1876G>A substitution changing an aspartic acid to asparagine (D626N) was identified in LDB3 in four members of two families with LVNC. A 163G>A polymorphism was identified in LDB3, which changed a valine to isoleucine (V551) in one patient with isolated LVNC. In addition, in a family with nonisolated LVNC, a 362C>T mutation was identified in DEM. LVNC, like other forms of inherited cardiomyopathy, is a genetically heterogeneous disease, associated with variable clinical symptoms and can be inherited as an autosomal or X-linked recessive disorder. Less

Report

(3 results)
  • 2006 Annual Research Report   Final Research Report Summary
  • 2005 Annual Research Report
  • Research Products

    (27 results)

All 2007 2006 2005

All Journal Article (24 results) Book (3 results)

  • [Journal Article] Developmental status of young infants with congenital heart disease2007

    • Author(s)
      Hirose Y, Ichida F, Oshima Y
    • Journal Title

      Pediatrics International (In press)

    • NAID

      10019814725

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Reversed pulmonary artery flow in isolated noncompaction of the ventricular myocardium2007

    • Author(s)
      Grebe S, Ichida F, Grabitz R et al.
    • Journal Title

      Fetal diagnosis and therapy 22

      Pages: 29-32

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Developmental status of young infants with congenital heart disease2007

    • Author(s)
      Hirose Y, Ichida F, Oshima Y
    • Journal Title

      Pediatrics International

    • NAID

      10019814725

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Genetic Analysis in Patients with Left Ventricular Noncompaction and Evidence for Genetic Heterogeneity2006

    • Author(s)
      Xing Y, Ichida F, Towbin J et al.
    • Journal Title

      Mol Genet Metab 88

      Pages: 2006-2006

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Expression of Myeloid-Related Protein (MRP) 8 and MRP14 in Patients with Acute Kawasaki Disease2006

    • Author(s)
      Hirono K, Foell D, Ichida F et al.
    • Journal Title

      J Am Coll Cardiol 46

      Pages: 1257-1264

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Interstitial lq43-q43 Deletion with Left Ventricular Noncompaction Myocardium2006

    • Author(s)
      Kanemoto N, Horigome H, Ichida F et al.
    • Journal Title

      European Journal of Medical Genetics 49

      Pages: 247-253

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Genetic Analysis in Patients with Left Ventricular Noncompaction and Evidence for Genetic Heterogeneity2006

    • Author(s)
      Xing Y, Ichida F, Towbin J et al.
    • Journal Title

      Molecular Genetics & Metabolism. 88

      Pages: 71-77

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Expression of Myeloid-Related Protein (MRP) 8 and MRP14 in Patients with Acute Kawasaki Disease2006

    • Author(s)
      Hirono K, Foell D, Ichida F et al.
    • Journal Title

      J Am Coll Cardiol 48

      Pages: 1257-64

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Interstitial 1q43-q43 Deletion with Left Ventricular Noncompaction Myocardium2006

    • Author(s)
      Kanemoto N, Horigome H, Ichida F et al.
    • Journal Title

      European Journal of Medical Genetics 49

      Pages: 247-53

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Reversed pulmonary artery flow in isolated noncompaction of the ventricular myocardium2006

    • Author(s)
      Grebe S, Ichida F, Grabitz R et al.
    • Journal Title

      Fetal Diagn Ther. 22(1)

      Pages: 29-32

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Genetic Analysis in Patients with Left Ventricular Noncompaction and Evidence for Genetic Heterogeneity2006

    • Author(s)
      Xing Y, Ichida F, Towbin J, et al.
    • Journal Title

      Mol Genet Metab 88

      Pages: 71-77

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Expression of Myeloid-Related Protein(MRP) 8 and MRP14 in Patients with Acute Kawasaki Disease2006

    • Author(s)
      Hirono K, Foell D, Ichida F, et al.
    • Journal Title

      J Am Coll Cardiol 48

      Pages: 1257-64

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Guidelines for the use of palivizumab in infants and young chidren with congenital heart disease.2006

    • Author(s)
      Nakazawa M, Saji T, Ichida F
    • Journal Title

      Pediatrics International 48

      Pages: 190-93

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Interstitial lq43-q43 Deletion with Left Ventricular Noncompaction Myocardium2006

    • Author(s)
      Kanemoto N, Horigome H, Ichida F, et al.
    • Journal Title

      European Journal of Medical Genetics 49

      Pages: 247-53

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Reversed pulmonary artery flow in noncompaction ventricular myocardium2006

    • Author(s)
      Grebe S, Ichida F, Frabits R et al.
    • Journal Title

      Ultrasound in Obstetrics and Gynecology 22

      Pages: 29-32

    • Related Report
      2006 Annual Research Report
  • [Journal Article] 心筋緻密化障害と不整脈2006

    • Author(s)
      市田蕗子
    • Journal Title

      日本心電図学会誌 26,Supp2

      Pages: 5-16

    • NAID

      10019172046

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Genetic Analysis in Patients with Left Ventricular Noncompaction and Evidence for Genetic Heterogeneity2006

    • Author(s)
      Xing Y, Ichida F, Towbin J et al.
    • Journal Title

      Mol Genet Metab (In press)

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Expression of Myeloid-Related Protein(MRP) 8 and MRP 14 in Patients with Acute Kawasaki Disease2006

    • Author(s)
      Hirono K, Foell D, Ichida F et al.
    • Journal Title

      J Am Coll Cardiol (In press)

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Developmental status of young infants with congenital heart disease2006

    • Author(s)
      Hirose Y, Ichida F, Oshima Y
    • Journal Title

      Pediatrics International (In press)

    • NAID

      10019814725

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Interstitial 1q43-q43 Deletion with Left Ventricular Noncompaction Myocardium2006

    • Author(s)
      Kanemoto N, Horigome H, Ichida F et al.
    • Journal Title

      European Journal of Medical Genetics 48(In press)

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Reversed pulmonary artery flow in noncompaction ventricular myocardium2006

    • Author(s)
      Grebe S, Ichida F, Grabitz R et al.
    • Journal Title

      Ultrasound in Obstetrics and Gynecology (In press)

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Myeloid-related protein 8 and 14 induce a specific inflammatory response in human microvascular endothelial cells.2005

    • Author(s)
      Viemann D, Strey A, Ichida F et al.
    • Journal Title

      Blood 105

      Pages: 2955-2962

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary 2005 Annual Research Report
  • [Journal Article] Myeloid-related protein 8 and 14 induce a specific inflammatory response in human microvascular endothelial cells.2005

    • Author(s)
      Viemann D, Strey A, Ichida F et al.
    • Journal Title

      Blood. 105

      Pages: 2955-62

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Journal Article] Novel gene mutations in patients with left ventricular noncompaction and evidence for genetic heterogeneity2005

    • Author(s)
      Fukiko Ichida
    • Journal Title

      Cardiovascular Development and Congenital Malformations. (Edited by Artman M, Blackwell Futura, Oxford, UK)

      Pages: 277-278

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Book] 臨床心臓病学(文光堂)2006

    • Author(s)
      市田蕗子
    • Total Pages
      2
    • Publisher
      左室心筋緻密化障害
    • Related Report
      2006 Annual Research Report
  • [Book] Cardiovascular Development and Congenital Malformations2005

    • Author(s)
      Fukiko Ichida
    • Total Pages
      2
    • Publisher
      Novel gene mutations in patients with left ventricular noncompaction and evidence for genetic heterogeneity
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2006 Final Research Report Summary
  • [Book] Cardiovascular Development and Congenital Malformations2005

    • Author(s)
      Fukiko Ichida
    • Total Pages
      2
    • Publisher
      Novel gene mutations, in patients with left ventricular, noncompaction and evidence for genetic heterogeneity
    • Related Report
      2005 Annual Research Report

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Published: 2005-04-01   Modified: 2016-04-21  

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