Title
Deficiencies of fibrillin and decorin in fibroblast-cultures of a patient with neonatal marfan-syndromeDeficiencies of fibrillin and decorin in fibroblast-cultures of a patient with neonatal marfan-syndrome
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences. Pharmacy
Research group
Department of Pharmaceutical Sciences
Publication type
article
Publication
London,
Subject
Human medicine
Source (journal)
Journal of medical genetics. - London
Volume/pages
29(1992):12, p. 875-878
ISSN
0022-2593
ISI
A1992KD37500007
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
Changes in the structure and metabolism of fibrillin, a microfibril associated protein, can result in classical Marfan syndrome, and reduced expression of decorin, a small extracellular chondroitin sulphate/dermatan sulphate proteoglycan, has been observed in fibroblasts of a patient with neonatally lethal Marfan syndrome. We have studied the synthesis of fibrillin and decorin in cultured fibroblasts of a further sporadic patient with neonatally lethal Marfan syndrome. Fibrillin immunoreactivity in the extracellular matrix of the patient's fibroblasts was markedly reduced, and the fibrillar pattern was absent, in spite of normal amounts of fibrillin mRNA. Decorin mRNA, synthesis, and immunoreactivity in the matrix were also reduced. The results indicate involvement of both fibrillin and decorin in the pathogenesis of neonatal Marfan syndrome in this patient, but do not indicate which is the primary defect. We speculate, however, that a structural defect of fibrillin leads to diminished incorporation of the protein into the extracellular matrix, and that underexpression of decorin is secondary to the primary fibrillin defect. Combined deficiency of fibrillin and decorin may be the cause of the severe clinical phenotype.
Full text (open access)
https://repository.uantwerpen.be/docman/irua/6160f4/4900.pdf
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