Abnormal expression of intermediate filament proteins in X-linked myotubular myopathy is not reproduced in vitro

Expression patterns of the intermediate filament proteins (IFPs) desmin and vimentin, in biopsy material taken from a 1 day old boy with fatal neonatal X-linked myotubular myopathy (XLMTM) were compared with the expression of these proteins in cultured myotubes, from the same patient. Immunohistoche...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 1995-07, Vol.5 (4), p.267-275
Main Authors: Van Der Ven, Peter F.M., Jap, Paul H.K., Barth, Peter G., Sengers, Rob C.A., Ramaekers, Frans C.S., Stadhouders, Ad M.
Format: Article
Language:English
Subjects:
Cells, Cultured - chemistry
Desmin - analysis
Desmin - genetics
Fluorescent Antibody Technique
Genetic Linkage
Genetic Markers
Humans
immunohistochemistry
In Vitro Techniques
Infant, Newborn
intermediate filament proteins
Intermediate Filaments - genetics
Male
muscle fibre immaturity
Muscle, Skeletal - chemistry
Muscle, Skeletal - cytology
Muscular Diseases - genetics
Myosins - analysis
Myosins - classification
skeletal muscle cell cultures
titin
Vimentin - analysis
Vimentin - genetics
X Chromosome
X-linked myotubular myopathy
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Summary:Expression patterns of the intermediate filament proteins (IFPs) desmin and vimentin, in biopsy material taken from a 1 day old boy with fatal neonatal X-linked myotubular myopathy (XLMTM) were compared with the expression of these proteins in cultured myotubes, from the same patient. Immunohistochemical studies revealed the persistence of high levels of desmin in virtually all, and vimentin in most, of the myofibres within the patient's biopsy. Analysis of intermediate filament expression in differentiating, cultured muscle cells did not reveal overt differences between XLMTM cultures and cultures of control muscle. Titin distribution patterns indicated a normal process of myofibrillogenesis in XLMTM myotubes. We conclude that the failure to properly regulate IFP-expression is not intrinsic to XLMTM muscle fibres. The possibility that this failure is due to a defective external, possibly neural factor, is discussed.
ISSN:0960-8966
1873-2364
DOI:10.1016/0960-8966(94)00067-J