ArticleThe Journal of physiology2008
Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation.
Article in The Journal of physiology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 53 citations in OpenAlex.
- Congenital myopathies: pathophysiological mechanisms and promising therapies.Journal of translational medicine · 2024Review
- Small molecule drugs to improve sarcomere function in those with acquired and inherited myopathies.American journal of physiology. Cell physiology · 2023Review
- A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis.JCI insight · 2022Article
- Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.Acta neuropathologica communications · 2020Article
- In vitro effects of levosimendan on muscle of malignant hyperthermia susceptible and non-susceptible swine.BMC anesthesiology · 2018Article
- A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I.International journal of clinical and experimental pathology · 2017Article
- Modulating myosin restores muscle function in a mouse model of nemaline myopathy.Annals of neurology · 2016Article
- 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
- Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.Human molecular genetics · 2013Article
- Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function.Journal of muscle research and cell motility · 2013Article
- Myofilament lattice structure in presence of a skeletal myopathy-related tropomyosin mutation.Journal of muscle research and cell motility · 2013Article
- Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.Journal of medical genetics · 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
- Article
- Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures.PloS one · 2013Article
- Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.Human molecular genetics · 2012Article
- Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
A novel E41K beta-tropomyosin (beta-Tm) mutation, associated with congenital myopathy and muscle weakness, was recently identified in a woman and her daughter. In both patients, muscle weakness was coupled with muscle fibre atrophy. It remains unknown, however, whether the E41K beta-Tm mutation directly affects regulation of muscle contraction, contributing to the muscle weakness. To address this question, we studied a broad range of contractile characteristics in skinned muscle fibres from the two patients and eight healthy controls. Results showed decreases (i) in speed of contraction at saturated Ca(2+) concentration (apparent rate constant of force redevelopment (k(tr)) and unloaded shortening speed (V(0))); and (ii) in contraction sensitivity to Ca(2+) concentration, in fibres from patients compared with controls, suggesting that the mutation has a negative effect on contractile function, contributing to the muscle weakness. To investigate whether these negative impacts are reversible, we exposed skinned muscle fibres to the Ca(2+) sensitizer EMD 57033. In fibres from patients, 30 mum of EMD 57033 (i) had no effect on speed of contraction (k(tr) and V(0)) at saturated Ca(2+) concentration but (ii) increased Ca(2+) sensitivity of contraction, suggesting a potential therapeutic approach in patients carrying the E41K beta-Tm mutation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.