Literature DB >> 8246011

Abnormal localization of laminin subunits in muscular dystrophies.

Y K Hayashi1, E Engvall, E Arikawa-Hirasawa, K Goto, R Koga, I Nonaka, H Sugita, K Arahata.   

Abstract

To address potential involvement of muscle basal lamina and membrane cytoskeleton proteins in the etiology of non-dystrophinopathy muscular dystrophies, we examined the immunostaining intensity and distribution of laminin subunits (A, B1, B2 and M), type IV collagen, dystrophin and spectrin in skeletal muscle biopsies from 64 myopathic patients (17 Fukuyama congenital muscular dystrophy: FCMD, 13 congenital muscular dystrophy unrelated to FCMD: other CMD, 16 Duchenne muscular dystrophy: DMD, and 18 other neuromuscular diseases. In FCMD muscle, we found a significant reduction of laminin M (merosin; a striated muscle specific basal lamina-associated protein) with approximately 26% of levels seen in controls by quantitative immunofluorescence. Other CMD and DMD muscles showed less dramatic reductions (78%, 80%, respectively). The localization of laminin M was also abnormal in FCMD muscle. Laminin B1 and B2 showed abnormalities similar to those observed with laminin M, but were less marked. Laminin A was only detected in rare regenerating fibers in control biopsies, whereas it was seen around most muscle fibers in FCMD patients, and in dystrophin deficient muscle fibers from DMD patients and its carrier. Staining intensity of type IV collagen in FCMD muscle was not significantly different from the other diseases. These findings may implicate a primary or central role for the basal lamina in FCMD muscle.

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Year:  1993        PMID: 8246011     DOI: 10.1016/0022-510x(93)90191-z

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN: 0022-510X            Impact factor:   3.181


  32 in total

1.  Extrasynaptic location of laminin beta 2 chain in developing and adult human skeletal muscle.

Authors:  U M Wewer; L E Thornell; F Loechel; X Zhang; M E Durkin; S Amano; R E Burgeson; E Engvall; R Albrechtsen; I Virtanen
Journal:  Am J Pathol       Date:  1997-08       Impact factor: 4.307

2.  Integrins (alpha7beta1) in muscle function and survival. Disrupted expression in merosin-deficient congenital muscular dystrophy.

Authors:  P H Vachon; H Xu; L Liu; F Loechel; Y Hayashi; K Arahata; J C Reed; U M Wewer; E Engvall
Journal:  J Clin Invest       Date:  1997-10-01       Impact factor: 14.808

3.  Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Authors:  M Brockington; D J Blake; P Prandini; S C Brown; S Torelli; M A Benson; C P Ponting; B Estournet; N B Romero; E Mercuri; T Voit; C A Sewry; P Guicheney; F Muntoni
Journal:  Am J Hum Genet       Date:  2001-10-08       Impact factor: 11.025

4.  Familial fetal akinesia deformation sequence with a skeletal muscle maturation defect.

Authors:  K Vuopala; F Pedrosa-Domellöf; R Herva; J Leisti; L E Thornell
Journal:  Acta Neuropathol       Date:  1995       Impact factor: 17.088

5.  Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models.

Authors:  W Kuang; H Xu; P H Vachon; L Liu; F Loechel; U M Wewer; E Engvall
Journal:  J Clin Invest       Date:  1998-08-15       Impact factor: 14.808

6.  Expression of laminin subunits in human fetal skeletal muscle.

Authors:  C A Sewry; M Chevallay; F M Tomé
Journal:  Histochem J       Date:  1995-07

7.  Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse.

Authors:  H Xu; P Christmas; X R Wu; U M Wewer; E Engvall
Journal:  Proc Natl Acad Sci U S A       Date:  1994-06-07       Impact factor: 11.205

8.  Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.

Authors:  Nanna Witting; Morten Duno; Helle Petri; Thomas Krag; Henning Bundgaard; Lars Kober; John Vissing
Journal:  J Neurol       Date:  2013-05-14       Impact factor: 4.849

9.  Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium.

Authors:  T Toda; S Ikegawa; K Okui; E Kondo; K Saito; Y Fukuyama; M Yoshioka; T Kumagai; K Suzumori; I Kanazawa
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

Review 10.  The role of laminins in the organization and function of neuromuscular junctions.

Authors:  Robert S Rogers; Hiroshi Nishimune
Journal:  Matrix Biol       Date:  2016-09-07       Impact factor: 11.583

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