ArticleThe Journal of physiology2007
Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres.
Article in The Journal of physiology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 53 citations in OpenAlex.
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- Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly.Molecular genetics & genomic medicine · 2021Article
- Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.Acta neuropathologica communications · 2020Article
- A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.Journal of neurology · 2016Article
- Modulating myosin restores muscle function in a mouse model of nemaline myopathy.Annals of neurology · 2016Article
- AMC: amyoplasia and distal arthrogryposis.Journal of children's orthopaedics · 2015Article
- The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.Human molecular genetics · 2015Article
- Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.Brain : a journal of neurology · 2015Review
- Pointed-end capping by tropomodulin modulates actomyosin crossbridge formation in skeletal muscle fibers.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2014Article
- Myofilament lattice structure in presence of a skeletal myopathy-related tropomyosin mutation.Journal of muscle research and cell motility · 2013Article
- First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.Journal of Korean medical science · 2013Article
- The fraction of strongly bound cross-bridges is increased in mice that carry the myopathy-linked myosin heavy chain mutation MYH4L342Q.Disease models & mechanisms · 2013Article
- Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.Brain : a journal of neurology · 2013Article
- Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.Human molecular genetics · 2012Article
- Article
- A myopathy-linked tropomyosin mutation severely alters thin filament conformational changes during activation.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
- Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.Journal of molecular medicine (Berlin, Germany) · 2008Review
- Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation.The Journal of physiology · 2008Article
- Tropomyosin in the groove? Molecular insights into an inherited myopathy.The Journal of physiology · 2007Article
- Sarcomere Dysfunction in Nemaline Myopathy.Journal of neuromuscular diseasesReview
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
Abstract
A novel R133W beta-tropomyosin (beta-Tm) mutation, associated with muscle weakness and distal limb deformities, has recently been identified in a woman and her daughter. The muscle weakness was not accompanied by progressive muscle wasting or histopathological abnormalities in tibialis anterior muscle biopsy specimens. The aim of the present study was to explore the mechanisms underlying the impaired muscle function in patients with the beta-Tm mutation. Maximum force normalized to fibre cross-sectional area (specific force, SF), maximum velocity of unloaded shortening (V0), apparent rate constant of force redevelopment (ktr) and force-pCa relationship were evaluated in single chemically skinned muscle fibres from the two patients carrying the beta-Tm mutation and from healthy control subjects. Significant differences in regulation of muscle contraction were observed in the type I fibres: a lower SF (P<0.05) and ktr (P<0.01), and a faster V0 (P<0.05). The force-pCa relationship did not differ between patient and control fibres, indicating an unaltered Ca2+ activation of contractile proteins. Collectively, these results indicate a slower cross-bridge attachment rate and a faster detachment rate caused by the R133W beta-Tm mutation. It is suggested that the R133W beta-Tm mutation induces alteration in myosin-actin kinetics causing a reduced number of myosin molecules in the strong actin-binding state, resulting in overall muscle weakness in the absence of muscle wasting.
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