Literature DB >> 10525522

Malalignment of the sarcomeric filaments in hypertrophic cardiomyopathy with cardiac myosin heavy chain gene mutation.

A Muraishi1, H Kai, K Adachi, H Nishi, T Imaizumi.   

Abstract

OBJECTIVE: To investigate changes in the alignment of the sarcomeric filaments in hypertrophic cardiomyopathy and the effects of cardiac beta myosin heavy chain (beta-MHC) mutation on the sarcomeric ultrastructure.
DESIGN: A retrospective analysis. PATIENTS: Endomyocardial biopsy samples were examined by transmission electron microscopy in seven patients with hypertrophic cardiomyopathy and beta-MHC mutation, six with hypertrophic cardiomyopathy but without the mutation, and five controls (with chest pain syndromes). MAIN OUTCOME MEASURE: Alignment of the sarcomeric filaments and the distance between neighbouring thick myosin filaments.
RESULTS: In controls, cross sections of the sarcomere at the A band showed a highly organised orthohexagonal array with 6 thin actin filaments surrounding one thick myosin filament, whereas in hypertrophic cardiomyopathy the alignment of the sarcomeric filaments was sparse and disrupted. In hypertrophic cardiomyopathy with a mutation, the distance between neighbouring thick myosin filaments was greater than in controls (mean (SD) 45.3 (4.7) v 38.5 (3.5) nm, p < 0.05), and the variance of the distance was greater than in controls (8.0 (0.7) v 4.8 (1.0) nm, p < 0.001) or in patients with hypertrophic cardiomyopathy without a mutation (6.7 (0.6) nm, p < 0.05). In the latter, the variance of the distance was also greater than in the controls (p < 0.01). A significant correlation was found between the grade of the myocyte hypertrophy and the variance of the distance (r = 0.654; p < 0.01).
CONCLUSIONS: The alignment of the sarcomeric filaments is disrupted in hypertrophic cardiomyopathy, particularly when there is beta-MHC mutation.

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Year:  1999        PMID: 10525522      PMCID: PMC1760777          DOI: 10.1136/hrt.82.5.625

Source DB:  PubMed          Journal:  Heart        ISSN: 1355-6037            Impact factor:   5.994


  17 in total

1.  Expression of proto-oncogenes and gene mutation of sarcomeric proteins in patients with hypertrophic cardiomyopathy.

Authors:  H Kai; A Muraishi; Y Sugiu; H Nishi; Y Seki; F Kuwahara; A Kimura; H Kato; T Imaizumi
Journal:  Circ Res       Date:  1998-09-21       Impact factor: 17.367

2.  Hypertrophic cardiomyopathy: a discussion of nomenclature.

Authors:  B J Maron; S E Epstein
Journal:  Am J Cardiol       Date:  1979-06       Impact factor: 2.778

Review 3.  Hypertrophic cardiomyopathy.

Authors:  E K Louie; L C Edwards
Journal:  Prog Cardiovasc Dis       Date:  1994 Jan-Feb       Impact factor: 8.194

Review 4.  Hypertrophic cardiomyopathy.

Authors:  B J Maron
Journal:  Curr Probl Cardiol       Date:  1993-11       Impact factor: 5.200

5.  Heterologous expression of a cardiomyopathic myosin that is defective in its actin interaction.

Authors:  H L Sweeney; A J Straceski; L A Leinwand; B A Tikunov; L Faust
Journal:  J Biol Chem       Date:  1994-01-21       Impact factor: 5.157

6.  Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

Authors:  L Thierfelder; H Watkins; C MacRae; R Lamas; W McKenna; H P Vosberg; J G Seidman; C E Seidman
Journal:  Cell       Date:  1994-06-03       Impact factor: 41.582

7.  A missense mutation of cardiac beta-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families.

Authors:  H Harada; A Kimura; H Nishi; T Sasazuki; H Toshima
Journal:  Biochem Biophys Res Commun       Date:  1993-07-30       Impact factor: 3.575

8.  Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy.

Authors:  H Nishi; A Kimura; H Harada; H Toshima; T Sasazuki
Journal:  Biochem Biophys Res Commun       Date:  1992-10-15       Impact factor: 3.575

9.  Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy.

Authors:  G Cuda; L Fananapazir; W S Zhu; J R Sellers; N D Epstein
Journal:  J Clin Invest       Date:  1993-06       Impact factor: 14.808

10.  Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy.

Authors:  H Nishi; A Kimura; H Harada; K Adachi; Y Koga; T Sasazuki; H Toshima
Journal:  Biochem Biophys Res Commun       Date:  1994-04-15       Impact factor: 3.575

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  1 in total

Review 1.  Molecular genetics of cardiomyopathies.

Authors:  G Shah; R Roberts
Journal:  J Nucl Cardiol       Date:  2000 Mar-Apr       Impact factor: 5.952

  1 in total

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