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Title: Collagen expression in fibroblasts with a novel LMNA mutation

Abstract

Laminopathies are a group of genetic disorders caused by LMNA mutations; they include muscular dystrophies, lipodystrophies, and progeroid syndromes. We identified a novel heterozygous LMNA mutation, L59R, in a patient with the general appearance of mandibuloacral dysplasia and progeroid features. Examination of the nuclei of dermal fibroblasts revealed the irregular morphology characteristic of LMNA mutant cells. The nuclear morphological abnormalities of LMNA mutant lymphoblastoid cell lines were less prominent compared to those of primary fibroblasts. Since it has been reported that progeroid features are associated with increased extracellular matrix in dermal tissues, we compared a subset of these components in fibroblast cultures from LMNA mutants with those of control fibroblasts. There was no evidence of intracellular accumulation or altered mobility of collagen chains, or altered conversion of procollagen to collagen, suggesting that skin fibroblast-mediated matrix production may not play a significant role in the pathogenesis of this particular laminopathy.

Authors:
 [1];  [1];  [2];  [2];  [2];  [2];  [1];  [3]
  1. Department of Pathology, University of Washington, Seattle, WA 98195 (United States)
  2. Memorial University of Newfoundland, St. Johns, Nfld, A1B 3V6 (Canada)
  3. Department of Pathology, University of Washington, Seattle, WA 98195 (United States). E-mail: picard@u.washington.edu
Publication Date:
OSTI Identifier:
20857963
Resource Type:
Journal Article
Resource Relation:
Journal Name: Biochemical and Biophysical Research Communications; Journal Volume: 352; Journal Issue: 3; Other Information: DOI: 10.1016/j.bbrc.2006.11.070; PII: S0006-291X(06)02517-4; Copyright (c) 2006 Elsevier Science B.V., Amsterdam, The Netherlands, All rights reserved; Country of input: International Atomic Energy Agency (IAEA)
Country of Publication:
United States
Language:
English
Subject:
60 APPLIED LIFE SCIENCES; AGING; COLLAGEN; FIBROBLASTS; MORPHOLOGY; MUTANTS; MUTATIONS; PATHOGENESIS; PATIENTS; SKIN

Citation Formats

Nguyen, Desiree, Leistritz, Dru F., Turner, Lesley, MacGregor, David, Ohson, Kamal, Dancey, Paul, Martin, George M., and Oshima, Junko. Collagen expression in fibroblasts with a novel LMNA mutation. United States: N. p., 2007. Web. doi:10.1016/j.bbrc.2006.11.070.
Nguyen, Desiree, Leistritz, Dru F., Turner, Lesley, MacGregor, David, Ohson, Kamal, Dancey, Paul, Martin, George M., & Oshima, Junko. Collagen expression in fibroblasts with a novel LMNA mutation. United States. doi:10.1016/j.bbrc.2006.11.070.
Nguyen, Desiree, Leistritz, Dru F., Turner, Lesley, MacGregor, David, Ohson, Kamal, Dancey, Paul, Martin, George M., and Oshima, Junko. Fri . "Collagen expression in fibroblasts with a novel LMNA mutation". United States. doi:10.1016/j.bbrc.2006.11.070.
@article{osti_20857963,
title = {Collagen expression in fibroblasts with a novel LMNA mutation},
author = {Nguyen, Desiree and Leistritz, Dru F. and Turner, Lesley and MacGregor, David and Ohson, Kamal and Dancey, Paul and Martin, George M. and Oshima, Junko},
abstractNote = {Laminopathies are a group of genetic disorders caused by LMNA mutations; they include muscular dystrophies, lipodystrophies, and progeroid syndromes. We identified a novel heterozygous LMNA mutation, L59R, in a patient with the general appearance of mandibuloacral dysplasia and progeroid features. Examination of the nuclei of dermal fibroblasts revealed the irregular morphology characteristic of LMNA mutant cells. The nuclear morphological abnormalities of LMNA mutant lymphoblastoid cell lines were less prominent compared to those of primary fibroblasts. Since it has been reported that progeroid features are associated with increased extracellular matrix in dermal tissues, we compared a subset of these components in fibroblast cultures from LMNA mutants with those of control fibroblasts. There was no evidence of intracellular accumulation or altered mobility of collagen chains, or altered conversion of procollagen to collagen, suggesting that skin fibroblast-mediated matrix production may not play a significant role in the pathogenesis of this particular laminopathy.},
doi = {10.1016/j.bbrc.2006.11.070},
journal = {Biochemical and Biophysical Research Communications},
number = 3,
volume = 352,
place = {United States},
year = {Fri Jan 19 00:00:00 EST 2007},
month = {Fri Jan 19 00:00:00 EST 2007}
}