Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome.
Details
Serval ID
serval:BIB_E66E5783C3F9
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome.
Journal
Journal of Medical Genetics
ISSN
0022-2593 (Print)
ISSN-L
0022-2593
Publication state
Published
Issued date
1992
Volume
29
Number
12
Pages
875-878
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
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.
Keywords
Antibodies, Monoclonal, Blotting, Northern, Cells, Cultured, DNA/analysis, Decorin, Extracellular Matrix/metabolism, Extracellular Matrix Proteins, Fibroblasts/metabolism, Fluorescent Antibody Technique, Humans, Infant, Newborn, Male, Marfan Syndrome/etiology, Marfan Syndrome/metabolism, Microfilament Proteins/deficiency, Microfilament Proteins/genetics, Proteoglycans/deficiency, Proteoglycans/genetics, RNA, Messenger/analysis
Pubmed
Create date
14/03/2011 17:14
Last modification date
20/08/2019 17:09