A cell surface abnormality in Duchenne muscular dystrophy: intercellular adhesiveness of skin fibroblasts from patients and carriers

Jones, G. E., Witkowski, J. A. (1983) A cell surface abnormality in Duchenne muscular dystrophy: intercellular adhesiveness of skin fibroblasts from patients and carriers. Human genetics, 63 (3). pp. 232-7. ISSN 0340-6717 (Print)0340-6717

URL: http://www.ncbi.nlm.nih.gov/pubmed/6852819

Abstract

The intercellular adhesiveness of skin fibroblasts from patients and carriers of Duchenne muscular dystrophy (DMD) and control subjects has been determined using couette viscometers. The values for 12 DMD patients (mean = 1.38, SEM = 0.1, n = 32) were significantly lower than for ten control subjects (mean = 3.17, SEM = 0.2, n = 22). According to the Lyon hypothesis, carriers of DMD should be mosaics of cells expressing the normal and DMD phenotypes, and their cultured skin fibroblasts should have intercellular adhesiveness intermediate between that for normal and DMD cells. Cells from three obligate heterozygotes and five individuals at high risk of being carriers had normal values (in both groups mean = 2.82) in contrast to artificial 1:1 mixtures of normal and DMD cells that had intermediate values (mean = 2.22, SEM = 0.2, n = 15). This unexpected finding is probably the result of "correction" of the DMD cells by normal gene product from the cells expressing the normal gene.

Item Type: Paper
Uncontrolled Keywords: Cell Adhesion Cell Membrane/*pathology Cells, Cultured Fibroblasts/pathology Heterozygote Humans Muscular Dystrophies/*genetics/pathology Skin/cytology Viscosity
Subjects: organs, tissues, organelles, cell types and functions > cell types and functions > cell types > fibroblasts
organs, tissues, organelles, cell types and functions > cell types and functions > cell types > fibroblasts
organs, tissues, organelles, cell types and functions > cell types and functions > cell types > fibroblasts

diseases & disorders > congenital hereditary genetic diseases > muscular dystrophy
CSHL Authors:
Communities: Banbury Center
Depositing User: Matt Covey
Date: 1983
Date Deposited: 26 Nov 2014 17:22
Last Modified: 26 Nov 2014 17:22
URI: http://repository.cshl.edu/id/eprint/30419

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