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Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies.

Gawlik, Kinga LU and Durbeej-Hjalt, Madeleine LU (2011) In Skeletal Muscle 1(1).
Abstract
Laminin-211 is a cell-adhesion molecule that is strongly expressed in the basement membrane of skeletal muscle. By binding to the cell surface receptors dystroglycan and integrin α7β1, laminin-211 is believed to protect the muscle fiber from damage under the constant stress of contractions, and to influence signal transmission events. The importance of laminin-211 in skeletal muscle is evident from merosin-deficient congenital muscular dystrophy type 1A (MDC1A), in which absence of the α2 chain of laminin-211 leads to skeletal muscle dysfunction. MDC1A is the commonest form of congenital muscular dystrophy in the European population. Severe hypotonia, progressive muscle weakness and wasting, joint contractures and consequent impeded motion... (More)
Laminin-211 is a cell-adhesion molecule that is strongly expressed in the basement membrane of skeletal muscle. By binding to the cell surface receptors dystroglycan and integrin α7β1, laminin-211 is believed to protect the muscle fiber from damage under the constant stress of contractions, and to influence signal transmission events. The importance of laminin-211 in skeletal muscle is evident from merosin-deficient congenital muscular dystrophy type 1A (MDC1A), in which absence of the α2 chain of laminin-211 leads to skeletal muscle dysfunction. MDC1A is the commonest form of congenital muscular dystrophy in the European population. Severe hypotonia, progressive muscle weakness and wasting, joint contractures and consequent impeded motion characterize this incurable disorder, which causes great difficulty in daily life and often leads to premature death. Mice with laminin α2 chain deficiency have analogous phenotypes, and are reliable models for studies of disease mechanisms and potential therapeutic approaches. In this review, we introduce laminin-211 and describe its structure, expression pattern in developing and adult muscle and its receptor interactions. We will also discuss the molecular pathogenesis of MDC1A and advances toward the development of treatment. (Less)
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author
organization
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type
Contribution to journal
publication status
published
subject
in
Skeletal Muscle
volume
1
issue
1
publisher
BioMed Central
external identifiers
  • PMID:21798088
  • Scopus:84863251717
ISSN
2044-5040
DOI
10.1186/2044-5040-1-9
language
English
LU publication?
yes
id
1fe80acf-4301-4153-957e-9d5fa279ae88 (old id 2151725)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/21798088?dopt=Abstract
date added to LUP
2011-09-04 20:54:55
date last changed
2016-10-13 04:35:22
@misc{1fe80acf-4301-4153-957e-9d5fa279ae88,
  abstract     = {Laminin-211 is a cell-adhesion molecule that is strongly expressed in the basement membrane of skeletal muscle. By binding to the cell surface receptors dystroglycan and integrin α7β1, laminin-211 is believed to protect the muscle fiber from damage under the constant stress of contractions, and to influence signal transmission events. The importance of laminin-211 in skeletal muscle is evident from merosin-deficient congenital muscular dystrophy type 1A (MDC1A), in which absence of the α2 chain of laminin-211 leads to skeletal muscle dysfunction. MDC1A is the commonest form of congenital muscular dystrophy in the European population. Severe hypotonia, progressive muscle weakness and wasting, joint contractures and consequent impeded motion characterize this incurable disorder, which causes great difficulty in daily life and often leads to premature death. Mice with laminin α2 chain deficiency have analogous phenotypes, and are reliable models for studies of disease mechanisms and potential therapeutic approaches. In this review, we introduce laminin-211 and describe its structure, expression pattern in developing and adult muscle and its receptor interactions. We will also discuss the molecular pathogenesis of MDC1A and advances toward the development of treatment.},
  author       = {Gawlik, Kinga and Durbeej-Hjalt, Madeleine},
  issn         = {2044-5040},
  language     = {eng},
  number       = {1},
  publisher    = {ARRAY(0x87bbd20)},
  series       = {Skeletal Muscle},
  title        = {Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies.},
  url          = {http://dx.doi.org/10.1186/2044-5040-1-9},
  volume       = {1},
  year         = {2011},
}