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

Autor: Ven, P.F.M. van der, Jap, P.H.K., Laak, H.J. ter, Nonaka, I., Barth, P.G., Sengers, R.C.A., Stadhouders, A.M., Ramaekers, F.C.S.
Přispěvatelé: Other departments
Rok vydání: 1995
Předmět:
Central Nervous System
Male
Pathology
Genetic Linkage
Intermediate Filaments
Fluorescent Antibody Technique
Vimentin
Cardiovascular
Desmin
Mitochondrial myopathy
Myocyte
Neural Tube Defects
Metabolic Processes (Non MeSH)
Intermediate filament
Genetics (clinical)
Hereditary Diseases
Cells
Cultured
Eiwitchemische typering
ontregeling van eiwitfosforylering en ionhomeostase. pathologische studies [Moleculair-celbiologisch onderzoek aan dystrophia myotonica]
Myogenesis
Inborn Errors
Mental Disorders
Mitochondrial Myopathies
Skeletal
Neuromuscular Diseases
X-linked myotubular myopathy
Mitochondria
Chemistry
Neurology
Muscle
Titin
Homocystinuria
Intracellular transport of glycoproteins in polarized epithelial cells
Genetic Markers
medicine.medical_specialty
X Chromosome
Pregnancy Complications
Cardiovascular
macromolecular substances
Inborn errors of metabolism
Biology
In Vitro Techniques
Myosins
Biochemical
Clinical
Metabolic Diseases
Muscular Diseases
medicine
Genetics
Intracellulair transport van glycoprotëinen in gepolariseerde epitheelcellen epitheelcellen
Humans
Genetics
Biochemical
Vascular Diseases
Muscle
Skeletal
Erfelijke stofwisselingsziekten
Infant
Newborn
Fibroblasts
medicine.disease
Pregnancy Complications
Metabolism
Chemistry
Clinical
Pediatrics
Perinatology and Child Health
Mutation
biology.protein
Neurology (clinical)
Energy Metabolism
Metabolism
Inborn Errors
Protein-chemical typing
abnormal protein phosphorylation and ion-homeostasis
and pathobiological studies [Molecular-Cellbiology of myotonic dystrophy]
Zdroj: Neuromuscular Disorders, 5, 4, pp. 267-275
Neuromuscular disorders, 5(4), 267-275. Elsevier Limited
Neuromuscular Disorders, 5, 267-275
ISSN: 0960-8966
Popis: 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.
Databáze: OpenAIRE
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