Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy

A. Kimura, H. Harada, J. E. Park, H. Nishi, M. Satoh, M. Takahashi, S. Hiroi, T. Sasaoka, N. Ohbuchi, T. Nakamura, T. Koyanagi, T. H. Hwang, J. A. Choo, K. S. Chung, A. Hasegawa, R. Nagai, O. Okazaki, H. Nakamura, M. Matsuzaki, T. SakamotoH. Toshima, Y. Koga, T. Imaizumi, Takehiko Sasazuki

Research output: Contribution to journalArticle

432 Citations (Scopus)

Abstract

Hypertrophic cardiomyopathy (HCM), the most common cause of sudden death in the young, is an autosomal dominant disease characterized by ventricular hypertrophy accompanied by myofibrillar disarrays. Linkage studies and candidate-gene approaches have demonstrated that about haft of the patients have mutations in one of six disease genes; cardiac β-myosin heavy chain (cβMHC) cardiac troponin T (cTnT), α-tropomyosin (αTM), cardiac myosin binding protein C (cMBP-C), ventricular myosin essential light chain (vMLC1) and ventricular myosin regulatory light chain (vMLC2) genes. Other disease genes remain unknown. Because all the known disease genes encode major contractile elements in cardiac muscle, we have systematically characterized the cardiac sarcomere genes, including cardiac troponin 1 (cTnI), cardiac actin (cACT) and cardiac troponin C (cTnC) in 184 unrelated patients with HCM and found mutations in the cTnI gene in several patients. Family studies showed that an Arg145Gly mutation was linked to HCM and a Lys206Gln mutation had occurred de novo, thus strongly suggesting that cTnI is the seventh HCM gene.

Original languageEnglish
Pages (from-to)379-382
Number of pages4
JournalNature genetics
Volume16
Issue number4
DOIs
Publication statusPublished - Aug 14 1997
Externally publishedYes

Fingerprint

Troponin I
Hypertrophic Cardiomyopathy
Mutation
Genes
Troponin
Cardiac Myosins
Ventricular Myosins
Myosin Light Chains
Troponin C
Sarcomeres
Tropomyosin
Troponin T
Myosin Heavy Chains
Sudden Death
Hypertrophy
Actins
Cause of Death
Myocardium

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Kimura, A., Harada, H., Park, J. E., Nishi, H., Satoh, M., Takahashi, M., ... Sasazuki, T. (1997). Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nature genetics, 16(4), 379-382. https://doi.org/10.1038/ng0897-379

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. / Kimura, A.; Harada, H.; Park, J. E.; Nishi, H.; Satoh, M.; Takahashi, M.; Hiroi, S.; Sasaoka, T.; Ohbuchi, N.; Nakamura, T.; Koyanagi, T.; Hwang, T. H.; Choo, J. A.; Chung, K. S.; Hasegawa, A.; Nagai, R.; Okazaki, O.; Nakamura, H.; Matsuzaki, M.; Sakamoto, T.; Toshima, H.; Koga, Y.; Imaizumi, T.; Sasazuki, Takehiko.

In: Nature genetics, Vol. 16, No. 4, 14.08.1997, p. 379-382.

Research output: Contribution to journalArticle

Kimura, A, Harada, H, Park, JE, Nishi, H, Satoh, M, Takahashi, M, Hiroi, S, Sasaoka, T, Ohbuchi, N, Nakamura, T, Koyanagi, T, Hwang, TH, Choo, JA, Chung, KS, Hasegawa, A, Nagai, R, Okazaki, O, Nakamura, H, Matsuzaki, M, Sakamoto, T, Toshima, H, Koga, Y, Imaizumi, T & Sasazuki, T 1997, 'Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy', Nature genetics, vol. 16, no. 4, pp. 379-382. https://doi.org/10.1038/ng0897-379
Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nature genetics. 1997 Aug 14;16(4):379-382. https://doi.org/10.1038/ng0897-379
Kimura, A. ; Harada, H. ; Park, J. E. ; Nishi, H. ; Satoh, M. ; Takahashi, M. ; Hiroi, S. ; Sasaoka, T. ; Ohbuchi, N. ; Nakamura, T. ; Koyanagi, T. ; Hwang, T. H. ; Choo, J. A. ; Chung, K. S. ; Hasegawa, A. ; Nagai, R. ; Okazaki, O. ; Nakamura, H. ; Matsuzaki, M. ; Sakamoto, T. ; Toshima, H. ; Koga, Y. ; Imaizumi, T. ; Sasazuki, Takehiko. / Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. In: Nature genetics. 1997 ; Vol. 16, No. 4. pp. 379-382.
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AU - Hiroi, S.

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AU - Okazaki, O.

AU - Nakamura, H.

AU - Matsuzaki, M.

AU - Sakamoto, T.

AU - Toshima, H.

AU - Koga, Y.

AU - Imaizumi, T.

AU - Sasazuki, Takehiko

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