Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys)

M Li, Arimantas Lionikas, F Yu, H Tajsharghi, A Oldfors, L Larsson

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

The pathogenic events leading to the progressive muscle weakness in patients with a E706K mutation in the head of the myosin heavy chain (MyHC) IIa were analyzed at the muscle cell and motor protein levels. Contractile properties were measured in single muscle fiber segments using the skinned fiber preparation and a single muscle fiber in vitro motility assay. A dramatic impairment in the function of the IIa MyHC isoform was observed at the motor protein level. At the single muscle fiber level, on the other hand, a general decrease was observed in the number of preparations where the specific criteria for acceptance were fulfilled irrespective of MyHC isoform expression. Our results provide evidence that the pathogenesis of the MyHC IIa E706K myopathy involves defective function of the mutated myosin as well as alterations in the structural integrity of all muscle cells irrespective of MyHC isoform expression.
Original languageEnglish
Pages (from-to)782-791
Number of pages10
JournalNeuromuscular Disorders
Volume16
Issue number11
Early online date26 Sep 2006
DOIs
Publication statusPublished - Nov 2006

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Myosin Heavy Chains
Missense Mutation
Myosins
Muscle Cells
Protein Isoforms
Proteins
Muscles
Muscle Weakness
Muscular Diseases
Mutation

Keywords

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Biopsy
  • Case-Control Studies
  • Female
  • Humans
  • Male
  • Middle Aged
  • Muscle Contraction
  • Muscle Fibers, Skeletal
  • Muscle Weakness
  • Muscle, Skeletal
  • Mutation, Missense
  • Myosin Heavy Chains
  • Protein Isoforms

Cite this

Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys). / Li, M; Lionikas, Arimantas; Yu, F; Tajsharghi, H; Oldfors, A; Larsson, L.

In: Neuromuscular Disorders, Vol. 16, No. 11, 11.2006, p. 782-791.

Research output: Contribution to journalArticle

Li, M ; Lionikas, Arimantas ; Yu, F ; Tajsharghi, H ; Oldfors, A ; Larsson, L. / Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys). In: Neuromuscular Disorders. 2006 ; Vol. 16, No. 11. pp. 782-791.
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KW - Humans

KW - Male

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