Title
Abnormal morphology of fibrillin microfibrils in fibroblast-cultures from patients with neonatal marfan-syndromeAbnormal morphology of fibrillin microfibrils in fibroblast-cultures from patients with neonatal marfan-syndrome
Author
Publication type
article
Publication
Bethesda, Md,
Subject
Human medicine
Source (journal)
The American journal of pathology. - Bethesda, Md
Volume/pages
146():6, p. 1414-1421
ISSN
0002-9440
ISI
A1995RB99200014
Carrier
E
Target language
English (eng)
Abstract
The Marfan syndrome (MFS) is a connective tissue disorder manifested by variable pleiotropic features In the skeletal, ocular, and cardiovascular systems. The average life span in MFS is about 35 years. A group with much more severe cardiovascular disease and a mean life span of approximately I year also exists. We refer to this latter group as ''neonatal Marfan syndrome'' (nMFS). Fibrillin defects are now known to be the cause of MFS and nMFS. Immunofluorescence studies were the first to demonstrate this association. Here we describe immunofluorescence studies in a series of to neonates and summarize their salient clinical features. In vitro accumulation of fibrillin reactive fibers was assayed using monoclonal antibodies to fibrillin in hyperconfluent fibroblast cultures. As was previously observed in MTS, fibroblast cultures from nMFS patients showed an apparent decrease in accumulation of immunostainable fibrillin. Significantly, however, the morphology of the immunostained fibrils in the nMFS cultures were abnormal and differed not only from control cultures, but also from those seen in cultures of MFS fibroblasts. The nMFS fibrils appeared short, fragmented and frayed, characteristics that are not seen in MFS. Both the clinical and fibrillin morphology data provide evidence to suggest a useful subclassification of nMFS in the spectrum of MFS.
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