Hypertrophic cardiomyopathy (HCM) is characterized by ventricular hypertrophy accompanied by myofibrillar disarrays. Molecular genetic analyses have revealed that mutations in 8 different genes cause HCM, Mutations in these disease genes, however, could be found in about half of HCM patients, suggesting that there are other unknown disease gene(s), Because the known disease genes encode sarcomeric proteins expressed in the cardiac muscle, we searched for a disease-associated mutation in the titin gene in 82 HCM patients who had no mutation in the known disease genes. A G: to T transversion in codon 740, from CGC to CTC, replacing Arginine with Leucine was found in a patient. This mutation was not found in more than 500 normal chromosomes and increased the binding affinity of titin to alpha-actitin in the yeast two-hybrid assay. These observations suggest that the titin mutation may cause HCM in this patient via altered affinity to alpha-actinin. (C) 1999 Academic Press.
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Univ Sydney, Sydney Med Sch, Sydney, NSW 2006, Australia
Royal Prince Alfred Hosp, Dept Cardiol, Sydney, NSW, AustraliaMinneapolis Heart Inst Fdn, Hypertroph Cardiomyopathy Ctr, Minneapolis, MN 55407 USA
机构:
Fletcher Allen Hlth Care, Cardiol Unit, Burlington, VT USAFletcher Allen Hlth Care, Cardiol Unit, Burlington, VT USA
LeWinter, Martin M.
Granzier, Henk L.
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Univ Arizona, Sarver Mol Cardiovasc Res Program, Tucson, AZ USA
Univ Arizona, Dept Physiol, Tucson, AZ USAFletcher Allen Hlth Care, Cardiol Unit, Burlington, VT USA
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Cent South Univ, Xiangya Hosp 3, Dept Cardiovasc Med, Changsha, Peoples R ChinaCent South Univ, Xiangya Hosp 3, Dept Cardiovasc Med, Changsha, Peoples R China
Cao, Jing
Yuan, Lei
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Cent South Univ, Xiangya Hosp, Dept Med Affairs, Changsha, Peoples R ChinaCent South Univ, Xiangya Hosp 3, Dept Cardiovasc Med, Changsha, Peoples R China
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Hop Europeen Georges Pompidou, APHP Assistance Publ Hop Paris, Dept Cardiol, Paris, France
Hop Europeen Georges Pompidou, AP HP Assistance Publ Hop Paris, Ctr Reference Cardiomyopathies & Troubles Rythme C, Paris, France
Univ Paris, Paris Cardiovasc Res Ctr, INSERM, U 970, Paris, FranceHop Europeen Georges Pompidou, APHP Assistance Publ Hop Paris, Dept Cardiol, Paris, France
Hagege, Albert
Puscas, Tania
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Hop Europeen Georges Pompidou, APHP Assistance Publ Hop Paris, Dept Cardiol, Paris, France
Hop Europeen Georges Pompidou, AP HP Assistance Publ Hop Paris, Ctr Reference Cardiomyopathies & Troubles Rythme C, Paris, FranceHop Europeen Georges Pompidou, APHP Assistance Publ Hop Paris, Dept Cardiol, Paris, France
Puscas, Tania
El Hachmi, Mohamed
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Hop Europeen Georges Pompidou, AP HP Assistance Publ Hop Paris, Ctr Reference Cardiomyopathies & Troubles Rythme C, Paris, France
Univ Paris, Paris Cardiovasc Res Ctr, INSERM, U 970, Paris, France
Hop Europeen Georges Pompidou, AP HP Assistance Publ Hop Paris, Dept Genet, Paris, France
Sapienza Univ, Dept Mol Med, Rome, ItalyHop Europeen Georges Pompidou, APHP Assistance Publ Hop Paris, Dept Cardiol, Paris, France
El Hachmi, Mohamed
Parodi, Alessandro
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Hop Europeen Georges Pompidou, APHP Assistance Publ Hop Paris, Dept Cardiol, Paris, France
Hop Europeen Georges Pompidou, AP HP Assistance Publ Hop Paris, Ctr Reference Cardiomyopathies & Troubles Rythme C, Paris, France
Univ Piemonte Orientale, Vercelli, ItalyHop Europeen Georges Pompidou, APHP Assistance Publ Hop Paris, Dept Cardiol, Paris, France
Parodi, Alessandro
Bacher, Anne
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Hop Europeen Georges Pompidou, APHP Assistance Publ Hop Paris, Dept Cardiol, Paris, France
Hop Europeen Georges Pompidou, AP HP Assistance Publ Hop Paris, Ctr Reference Cardiomyopathies & Troubles Rythme C, Paris, FranceHop Europeen Georges Pompidou, APHP Assistance Publ Hop Paris, Dept Cardiol, Paris, France
Bacher, Anne
Funalot, Benoit
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Hop Henri Mondor, AP HP Assistance Publ Hop Paris, Dept Genet, Creteil, FranceHop Europeen Georges Pompidou, APHP Assistance Publ Hop Paris, Dept Cardiol, Paris, France
Funalot, Benoit
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Wahbi, Karim
Jeunemaitre, Xavier
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Hop Europeen Georges Pompidou, AP HP Assistance Publ Hop Paris, Ctr Reference Cardiomyopathies & Troubles Rythme C, Paris, France
Univ Paris, Paris Cardiovasc Res Ctr, INSERM, U 970, Paris, France
Hop Europeen Georges Pompidou, AP HP Assistance Publ Hop Paris, Dept Genet, Paris, FranceHop Europeen Georges Pompidou, APHP Assistance Publ Hop Paris, Dept Cardiol, Paris, France
Jeunemaitre, Xavier
Damy, Thibaud
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Hop Europeen Georges Pompidou, APHP Assistance Publ Hop Paris, Dept Cardiol, Paris, France
Hop Europeen Georges Pompidou, AP HP Assistance Publ Hop Paris, Ctr Reference Cardiomyopathies & Troubles Rythme C, Paris, FranceHop Europeen Georges Pompidou, APHP Assistance Publ Hop Paris, Dept Cardiol, Paris, France
Damy, Thibaud
Billon, Clarisse
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Hop Europeen Georges Pompidou, AP HP Assistance Publ Hop Paris, Ctr Reference Cardiomyopathies & Troubles Rythme C, Paris, France
Univ Paris, Paris Cardiovasc Res Ctr, INSERM, U 970, Paris, France
Hop Europeen Georges Pompidou, AP HP Assistance Publ Hop Paris, Dept Genet, Paris, FranceHop Europeen Georges Pompidou, APHP Assistance Publ Hop Paris, Dept Cardiol, Paris, France