Eye muscle sparing by the muscular dystrophies: lessons to be learned?
The devastating consequences of the various muscular dystrophies are even more obvious when a muscle or muscle group is spared. The study of the exceptional cell or tissue responses may prove to be of considerable value in the analysis of disease mechanisms. The small muscles responsible for eye movements, the extraocular muscles, have functional and morphological characteristics that set them aside from other skeletal muscles. Notably, these muscles are clinically unaffected in Duchenne/Becker, limb-girdle, and congenital muscular dystrophies, pathologies due to a broken mechanical or signaling linkage between the cytoskeleton and the extracellular matrix. Uncovering the strategies used by the extraocular muscles to "naturally" protect themselves in these diseases should contribute to knowledge of both pathogenesis and treatment. We propose that careful investigation of the cellular determinants of extraocular muscle-specific properties may provide insights into how these muscles avoid or adapt to the cascade of events leading to myofiber degeneration in the muscular dystrophies.
Andrade
F H
FH
Departments of Neurology, Case Western Reserve University, University Hospitals of Cleveland, and Department of Veterans Affairs Medical Center, Cleveland, Ohio 44106, USA. fha@po.cwru.edu
Porter
J D
JD
Kaminski
H J
HJ
D000818:Animals; D003598:Cytoskeletal Proteins / Q000235:genetics / Q000378:metabolism; D004195:Disease Models, Animal; D049030:Dystroglycans; D016189:Dystrophin / Q000378:metabolism; D005133:Eye Movements; D006801:Humans; D007150:Immunohistochemistry; D008562:Membrane Glycoproteins / Q000235:genetics / Q000378:metabolism; D008565:Membrane Proteins / Q000378:metabolism; D051379:Mice; D018345:Mice, Knockout; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D009136:Muscular Dystrophies / Q000378:metabolism / Q000473:pathology*; D009801:Oculomotor Muscles / Q000378:metabolism / Q000473:pathology*; D049031:Sarcoglycans; D049411:Utrophin
D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D016189:Dystrophin; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D049031:Sarcoglycans; C483600:Utrn protein, mouse; D049411:Utrophin; D049030:Dystroglycans