Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma.

Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, is a major component of the subsarcolemmal cytoskeleton and exists in a large oligomeric complex tightly associated with several sarcolemmal glycoproteins which provide a linkage to the extracellular matrix protein, laminin. In the present study, we investigated the status of the dystrophin-associated proteins in the skeletal muscle from 17 DMD patients of various ages. The results revealed a dramatic reduction in all of the dystrophin-associated proteins in the sarcolemma of DMD muscle compared with normal muscle and muscle from a variety of other neuromuscular diseases. This abnormality was common in all 17 DMD patients, irrespective of age. Our results indicate that the absence of dystrophin leads to the loss in all of the dystrophin-associated proteins, which renders DMD muscle fibers susceptible to necrosis. The analysis of dystrophin-associated proteins is important in the assessment of experimental therapies that attempt to replace dystrophin in DMD muscle.
AuthorsK Ohlendieck, K Matsumura, V V Ionasescu, J A Towbin, E P Bosch, S L Weinstein, S W Sernett, K P Campbell
JournalNeurology (Neurology) Vol. 43 Issue 4 Pg. 795-800 (Apr 1993) ISSN: 0028-3878 [Print] UNITED STATES
PMID8469343 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Dystrophin
  • Glycoproteins
  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Dystrophin (deficiency)
  • Glycoproteins (deficiency)
  • Humans
  • Immunohistochemistry
  • Middle Aged
  • Muscles (chemistry)
  • Muscular Dystrophies
  • Reference Values
  • Sarcolemma (chemistry)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research network!

Choose Username:
Verify Password: