ArticleThe Biochemical journal2002
Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility.
Article in The Biochemical journal, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 37 citations in OpenAlex.
- Actomyosin-Based Nanodevices for Sensing and Actuation: Bridging Biology and Bioengineering.Biosensors · 2025Review
- Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.Animal cells and systems · 2025Review
- Focus on cardiac troponin complex: From gene expression to cardiomyopathy.Genes & diseases · 2024Review
- Article
- Mavacamten rescues increased myofilament calcium sensitivity and dysregulation of CaAmerican journal of physiology. Heart and circulatory physiology · 2020Article
- Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments.PloS one · 2020Article
- Hypertrophic cardiomyopathy mutations increase myofilament CaThe Journal of biological chemistry · 2018Article
- Cardiac troponin structure-function and the influence of hypertrophic cardiomyopathy associated mutations on modulation of contractility.Archives of biochemistry and biophysics · 2016Review
- A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.PLoS genetics · 2014Article
- An in silico analysis of troponin I mutations in hypertrophic cardiomyopathy of Indian origin.PloS one · 2013Article
- The cardiac troponin C mutation Leu29Gln found in a patient with hypertrophic cardiomyopathy does not alter contractile parameters in skinned murine myocardium.Basic research in cardiology · 2009Article
- Ala scanning of the inhibitory region of cardiac troponin I.The Journal of biological chemistry · 2009Article
- Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice.The Journal of biological chemistry · 2008Article
- A revised method of troponin exchange in permeabilised cardiac trabeculae using vanadate: functional consequences of a HCM-causing mutation in troponin I.Journal of muscle research and cell motility · 2006Article
- Effects of the mutation R145G in human cardiac troponin I on the kinetics of the contraction-relaxation cycle in isolated cardiac myofibrils.The Journal of physiology · 2005Article
- Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.American journal of human genetics · 2003Article
- Random walks with thin filaments: application of in vitro motility assay to the study of actomyosin regulation.Journal of muscle research and cell motility · 2003Review
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We investigated the effects of two mutations in human cardiac troponin I, Arg(145)-->Gly and Gly(203)-->Ser, that are reported to cause familial hypertrophic cardiomyopathy. Mutant and wild-type troponin I, overexpressed in Escherichia coli, were used to reconstitute troponin complexes in vanadate-treated guinea pig cardiac trabeculae skinned fibres, and thin filaments were reconstituted with human cardiac troponin and tropomyosin along with rabbit skeletal muscle actin for in vitro motility and actomyosin ATPase assays. Troponin containing the Arg(145)-->Gly mutation inhibited force in skinned trabeculae less than did the wild-type, and had almost no inhibitory function in the in vitro motility assay. There was an enhanced inhibitory function with mixtures of 10-30% [Gly(145)]troponin I with the wild-type protein. Skinned trabeculae reconstituted with troponin I containing the Gly(203)-->Ser mutation and troponin C produced less Ca(2+)-activated force (64+/-8% of wild-type) and demonstrated lower Ca(2+) sensitivity [Delta(p)Ca(50) (log of the Ca(2+) concentration that gave 50% of maximal activation) 0.25 unit (P<0.05)] compared with wild-type troponin I, but thin filaments containing [Ser(203)]-troponin I were indistinguishable from those containing the wild-type protein in in vitro motility and ATPase assays. Thus these two mutations each result in hypertrophic cardiomyopathy, but have opposite effects on the overall contractility of the muscle in the systems we investigated, indicating either that we have not yet identified the relevant alteration in contractility for the Gly(203)->Ser mutation, or that the disease does not result directly from any particular alteration in contractility.
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