Elsevier

Journal of the Neurological Sciences

Volume 52, Issues 2–3, November–December 1981, Pages 367-384
Journal of the Neurological Sciences

Embryonic and foetal myosins in human skeletal muscle: The presence of foetal myosins in duchenne muscular dystrophy and infantile spinal muscular atrophy

https://doi.org/10.1016/0022-510X(81)90018-6Get rights and content

Abstract

Recently described techniques for separating myosin isoenzymes have been adapted for analysis of myosins from diseased and developing human skeletal muscle. The method is highly suitable for analysis of human myosins because only 2–3 mg of muscle are required for routine analyses.

Human embryonic/foetal myosins are electrophoretically distinct from mature skeletal myosins, and are not normally detected beyond the first month of post-natal life, except in premature infants. They have a high alkaline calcium-activated ATPase activity. This would account for the histochemical classification of foetal fibres as “Type II”, although physiological differences between adult fast-twitch muscle and foetal muscle are well recognized.

Foetal myosins are also synthesized in human skeletal muscle under certain pathological circumstances. Their presence in Duchenne dystrophy probably reflects the associated marked muscle regeneration, with immaturity of some muscle cells. The large amounts of foetal myosin present in many cases of infantile spinal muscular atrophy is evidence that innervation is necessary for the normal cessation of foetal myosin synthesis.

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      There is also evidence that exercise and aging can influence fetal MyHC expression in elderly humans [21,22], possibly related to denervation, but we are not aware that children with arthrogryposis have been studied. The high number of fibres with fetal MyHC from patients with 5q related SMA, particularly type 1 and 2, is consistent with our previous observations [23] and those of others [21,24,25], and shows that the presence of fetal MyHC is a feature of denervated muscle fibres, or possibly fibres that were never innervated. Studies of experimental animals have demonstrated that fetal MyHC is particularly induced in 2A fibres [9,26] and our early studies of biopsies from patients with SMA using an antibody considered to recognize 2A myosin (NOQ.7.5.2B) are consistent with this [23].

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    This work was supported by The National Health and Medical Research Council (Australia).

    1

    Address from October, 1981: MRC Laboratory of Molecular Biology, Cambridge, United Kingdom.

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