Collagen expression in fibroblasts with a novel LMNA mutation

Journal Article · Fri Jan 19 04:00:00 EST 2007 · Biochemical and Biophysical Research Communications

DOI:https://doi.org/10.1016/j.bbrc.2006.11.070· OSTI ID:20857963

Nguyen, Desiree ^[1]; Leistritz, Dru F ^[1]; Turner, Lesley ^[2]; MacGregor, David ^[2]; Ohson, Kamal ^[2]; Dancey, Paul ^[2]; Martin, George M ^[1]; Oshima, Junko ^[1]

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1. Department of Pathology, University of Washington, Seattle, WA 98195 (United States)
2. Memorial University of Newfoundland, St. Johns, Nfld, A1B 3V6 (Canada)

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.

• OSTI ID: 20857963
• Journal Information: Biochemical and Biophysical Research Communications, Journal Name: Biochemical and Biophysical Research Communications Journal Issue: 3 Vol. 352; ISSN 0006-291X; ISSN BBRCA9
• Country of Publication: United States
• Language: English

Related Subjects

60 APPLIED LIFE SCIENCES
AGING
COLLAGEN
FIBROBLASTS
MORPHOLOGY
MUTANTS
MUTATIONS
PATHOGENESIS
PATIENTS
SKIN