The neurobiology of duchenne muscular dystrophy: learning lessons from muscle?
Several forms of inherited muscular dystrophy are associated with brain abnormalities and cognitive impairment. One of the most common and severe of these diseases is Duchenne muscular dystrophy (DMD). Dystrophin, the product of the DMD gene, is found in neurones, where it is associated with the postsynaptic membrane. Cognitive impairment in individuals with DMD is thought to be due to an abnormality in the neuronal membrane that is caused by lack of dystrophin. Recent experimental evidence has provided valuable clues in our understanding of the complex molecular neurobiology of muscular dystrophy.
Blake
D J
DJ
Dept of Human Anatomy and Genetics, University of Oxford, UK OX1 3QX.
Kröger
S
S
D000818:Animals; D001921:Brain / Q000378:metabolism / Q000503:physiopathology*; D003072:Cognition Disorders / Q000209:etiology* / Q000378:metabolism; D016189:Dystrophin / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D006801:Humans; D051379:Mice; D005810:Multigene Family; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000150:complications* / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology*; D009474:Neurons / Q000378:metabolism; D009569:Nitric Oxide / Q000096:biosynthesis; D012160:Retina / Q000503:physiopathology; D013570:Synaptic Membranes / Q000378:metabolism
D016189:Dystrophin; D009569:Nitric Oxide