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Effects of a R133W ...
Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres
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- Ochala, Julien (författare)
- Uppsala universitet,Klinisk neurofysiologi,Department of Clinical Neurophysiology, Uppsala University Hospital, Uppsala, Sweden
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- Li, Mingxin (författare)
- Uppsala universitet,Klinisk neurofysiologi,Department of Clinical Neurophysiology, Uppsala University Hospital, Uppsala, Sweden / Department of Neurology, Qilu Hospital, Shandong University, Shandong, China
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- Tajsharghi, Homa (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology
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- Kimber, Eva, 1951 (författare)
- Gothenburg University,Göteborgs universitet,Uppsala universitet,Institutionen för kvinnors och barns hälsa,Department of Neuropaediatrics, Uppsala University Children's Hospital, Sweden,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences
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- Tulinius, Mar, 1953 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences
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- Oldfors, Anders, 1951 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology
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- Larsson, Lars (författare)
- Uppsala universitet,Klinisk neurofysiologi,Department of Clinical Neurophysiology, Uppsala University Hospital, Uppsala, Sweden / Center for Development and Health Genetics, Pennsylvania State University, University Park, PA, United States
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(creator_code:org_t)
- 2007-06-06
- 2007
- Engelska.
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Ingår i: Journal of Physiology. - : Wiley. - 0022-3751 .- 1469-7793. ; 581:Pt 3, s. 1283-92
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https://doi.org/10.1...
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https://gup.ub.gu.se...
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Abstract
Ämnesord
Stäng
- A novel R133W β-tropomyosin (β-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 β-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 β-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 β-Tm mutation. It is suggested that the R133W β-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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Nyckelord
- MEDICINE
- MEDICIN
- Medical sciences
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Ochala, Julien
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Li, Mingxin
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Tajsharghi, Homa
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Kimber, Eva, 195 ...
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Tulinius, Mar, 1 ...
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Oldfors, Anders, ...
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visa fler...
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Larsson, Lars
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- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Neurologi
- Artiklar i publikationen
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Journal of Physi ...
- J Physiol
- Av lärosätet
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Uppsala universitet
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Högskolan i Skövde
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Göteborgs universitet