| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
Regular Articles |
7ß1 in Muscular Dystrophy/Myopathy of Unknown Etiology
From the Neuromuscular Center,*Department of Neurological and Psychiatric Sciences, University of Padova, Padova, Italy; Department of Biomedical Sciences,University of Padova, Padova, Italy; the Department of Genetics, Biology, and Biochemistry,University of Torino, Torino, Italy; The Burnham Institute,La Jolla, California; and the Center for Genetic Medicine,¶Children’s Research Hospital, Washington, District of Columbia
To investigate the role of integrin 
7 in muscle pathology, we used a "candidate gene" approach in a large cohort of muscular dystrophy/myopathy patients. Antibodies against the intracellular domain of the integrin 7A and 7B were used to stain muscle biopsies from 210 patients with muscular dystrophy/myopathy of unknown etiology. Levels of 7A and 7B integrin were found to be decreased in 35 of 210 patients (
17%). In six of these patients no integrin 7B was detected. Screening for 7B mutation in 30 of 35 patients detected only one integrin 7 missense mutation (the mutation on the second allele was not found) in a patient presenting with a congenital muscular dystrophy-like phenotype. No integrin 7 gene mutations were identified in all of the other patients showing integrin 7 deficiency. In the process of mutation analysis, we identified a novel integrin 7 isoform presenting 72-bp deletion. This isoform results from a partial deletion of exon 21 due to the use of a cryptic splice site generated by a G to A missense mutation at nucleotide position 2644 in integrin 7 cDNA. This spliced isoform is present in about 12% of the chromosomes studied. We conclude that secondary integrin 7 deficiency is rather common in muscular dystrophy/myopathy of unknown etiology, emphasizing the multiple mechanisms that may modulate integrin function and stability.
This article has been cited by other articles:
 |
|
 |
|
  M. D. Boppart, S. E. Volker, N. Alexander, D. J. Burkin, and S. J. Kaufman Exercise promotes {alpha}7 integrin gene transcription and protection of skeletal muscle Am J Physiol Regulatory Integrative Comp Physiol, November 1, 2008; 295(5): R1623 - R1630. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. A. Peat, J. M. Smith, A. G. Compton, N. L. Baker, R. A. Pace, D. J. Burkin, S. J. Kaufman, S. R. Lamande, and K. N. North Diagnosis and etiology of congenital muscular dystrophy Neurology, July 29, 2008; 71(5): 312 - 321. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Liu, D. J. Burkin, and S. J. Kaufman Increasing {alpha}7{beta}1-integrin promotes muscle cell proliferation, adhesion, and resistance to apoptosis without changing gene expression Am J Physiol Cell Physiol, February 1, 2008; 294(2): C627 - C640. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. L. Gheyara, A. Vallejo-Illarramendi, K. Zang, L. Mei, R. St.-Arnaud, S. Dedhar, and L. F. Reichardt Deletion of Integrin-Linked Kinase from Skeletal Muscles of Mice Resembles Muscular Dystrophy Due to {alpha}7 1-Integrin Deficiency Am. J. Pathol., December 1, 2007; 171(6): 1966 - 1977. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. Jethanandani and R. H. Kramer {alpha}7 Integrin Expression Is Negatively Regulated by {delta}EF1 during Skeletal Myogenesis J. Biol. Chem., October 28, 2005; 280(43): 36037 - 36046. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. Yonekawa and J. M. Harlan Targeting leukocyte integrins in human diseases J. Leukoc. Biol., February 1, 2005; 77(2): 129 - 140. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. J. Burkin, G. Q. Wallace, D. J. Milner, E. J. Chaney, J. A. Mulligan, and S. J. Kaufman Transgenic Expression of {alpha}7{beta}1 Integrin Maintains Muscle Integrity, Increases Regenerative Capacity, Promotes Hypertrophy, and Reduces Cardiomyopathy in Dystrophic Mice Am. J. Pathol., January 1, 2005; 166(1): 253 - 263. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Koch, J. Schulze, U. Hansen, T. Ashwodt, D. R. Keene, W. J. Brunken, R. E. Burgeson, P. Bruckner, and L. Bruckner-Tuderman A Novel Marker of Tissue Junctions, Collagen XXII J. Biol. Chem., May 21, 2004; 279(21): 22514 - 22521. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. K. Inlow and L. L. Restifo Molecular and Comparative Genetics of Mental Retardation Genetics, February 1, 2004; 166(2): 835 - 881. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Xiao, P. Jethanandani, B. L. Ziober, and R. H. Kramer Regulation of {alpha}7 Integrin Expression during Muscle Differentiation J. Biol. Chem., December 12, 2003; 278(50): 49780 - 49788. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 B. Moghadaszadeh, R. Albrechtsen, L. T. Guo, M. Zaik, N. Kawaguchi, R. H. Borup, P. Kronqvist, H. D. Schroder, K. E. Davies, T. Voit, et al. Compensation for dystrophin-deficiency: ADAM12 overexpression in skeletal muscle results in increased {alpha}7 integrin, utrophin and associated glycoproteins Hum. Mol. Genet., October 1, 2003; 12(19): 2467 - 2479. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M.-G. Yeh, B. L. Ziober, B. Liu, G. Lipkina, I. S. Vizirianakis, and R. H. Kramer The {beta}1 Cytoplasmic Domain Regulates the Laminin-binding Specificity of the {alpha}7X1 Integrin Mol. Biol. Cell, September 1, 2003; 14(9): 3507 - 3518. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C Boito, M Fanin, G Siciliano, C Angelini, and E Pegoraro Novel sarcoglycan gene mutations in a large cohort of Italian patients J. Med. Genet., May 1, 2003; 40(5): e67 - 67. [Full Text] [PDF]
|
|
|
|
|
|
U. Mayer Integrins: Redundant or Important Players in Skeletal Muscle? J. Biol. Chem., April 18, 2003; 278(17): 14587 - 14590. [Full Text] [PDF]
|
|
|
|
|
|
R. Nawrotzki, M. Willem, N. Miosge, H. Brinkmeier, and U. Mayer Defective integrin switch and matrix composition at alpha 7-deficient myotendinous junctions precede the onset of muscular dystrophy in mice Hum. Mol. Genet., March 1, 2003; 12(5): 483 - 495. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
