Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins

Autor: Rob C.A. Sengers, Ad M. Stadhouders, Frans C. S. Ramaekers, Peter G. Barth, Henk J. ter Laak, Paul H.K. Jap, Peter F.M. van der Ven, Ikuya Nonaka
Přispěvatelé: Other departments
Jazyk: angličtina
Rok vydání: 1995
Předmět:
Central Nervous System
Male
Pathology
Fluorescent Antibody Technique
Muscle Proteins
Vimentin
Cardiovascular
Controlled nerve expansion in rabbits
Desmin
0302 clinical medicine
Myosin
Connectin
Neural Tube Defects
Metabolic Processes (Non MeSH)
Intermediate filament
Child
GeneralLiterature_REFERENCE(e.g.
dictionaries
encyclopedias
glossaries)
Hereditary Diseases
0303 health sciences
Extracellular Matrix Proteins
Zenuwoprekking met behoud van functie bij konijnen
biology
Eiwitchemische typering
ontregeling van eiwitfosforylering en ionhomeostase. pathologische studies [Moleculair-celbiologisch onderzoek aan dystrophia myotonica]
Mental Disorders
Inborn Errors
Mitochondrial Myopathies
Skeletal
Neuromuscular Diseases
Mitochondria
Chemistry
medicine.anatomical_structure
Neurology
Muscle
Titin
Homocystinuria
Female
Collagen
Adult
Sarcomeres
medicine.medical_specialty
Adolescent
Pregnancy Complications
Cardiovascular
macromolecular substances
Myosins
Biochemical
Immunophenotyping
03 medical and health sciences
Nebulin
Clinical
Metabolic Diseases
Muscular Diseases
medicine
Genetics
Humans
Genetics
Biochemical
Vascular Diseases
Centronuclear myopathy
Muscle
Skeletal
030304 developmental biology
Infant
Newborn
Skeletal muscle
Infant
Fibroblasts
medicine.disease
Pregnancy Complications
Cytoskeletal Proteins
Metabolism
Chemistry
Clinical
Mutation
biology.protein
Neurology (clinical)
Laminin
Energy Metabolism
Protein Kinases
030217 neurology & neurosurgery
Metabolism
Inborn Errors
Protein-chemical typing
abnormal protein phosphorylation and ion-homeostasis
and pathobiological studies [Molecular-Cellbiology of myotonic dystrophy]
Zdroj: The Journal of Neuroscience, 129, 199-213
The Journal of Neuroscience, 129, pp. 199-213
Journal of the neurological sciences, 129(2), 199-213. Elsevier
Journal of the Neurological Sciences, 129, 199-213
Journal of the Neurological Sciences, 129, 2, pp. 199-213
ISSN: 0270-6474
0022-510X
Popis: We have studied the expression and distribution patterns of the intermediate filament proteins desmin and vimentin, the sarcomere components titin, nebulin and myosin, the basement membrane constituents collagen type IV and laminin, and the reticular layer component collagen type VI in skeletal muscle of patients with “classic” congenital myopathies (CM), using indirect immunofluorescence assays. In all biopsy specimens obtained from patients with central core disease (CCD), nemaline myopathy (NM), X-linked myotubular myopathy (XLMTM) and centronuclear myopathy (CNM), disease-specific desmin disturbances were observed. Vimentin was present in immature fibres in severe neonatal NM, and as sarcoplasmic aggregates in one case of CNM, while the amounts of vimentin and embryonic myosin, observed in XLMTM, decreased with age of the patients. Abnormal expression of myosin isoforms was found in several CM biopsies, although the organization of myosin and other sarcomere components was rarely disturbed. Basement membrane and reticular layer proteins were often prominently increased in severe cases of CM. We conclude that (i) desmin is a marker for individual types of CM and might be used for diagnostic purposes; (ii) the expression patterns of the differentiation markers desmin, vimentin and embryonic myosin in XLMTM, point either to a postnatal muscle fibre maturation or to a variable time-point of maturational arrest in individual patients; (iii) the correlation between the distribution patterns of extracellular matrix proteins and clinical presentation points to a role of these proteins in pathophysiology of CM.
Databáze: OpenAIRE
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