X-linked dominant Charcot-Marie-Tooth disease and other potential gap-junction diseases of the nervous system.
Gap junctions play important roles in the exchange of information and metabolites in the nervous system. These roles are highlighted by peripheral neuropathy (X-linked dominant Charcot-Marie-Tooth disease) that is associated with mutations in a gap-junction protein (connexin32), resulting in loss of function, and by somatic dysfunctions where changes in expression, organization or function of gap junctions are associated with neuronal hyper- or hypoexcitability. In this review, the causes and consequences of this gap-junction-related peripheral neuropathy and other pathological conditions of the nervous system, where dysfunctions of junctional communication are considered to play a casual role, are considered.
Spray
D C
DC
Depts of Neuroscience, Albert Einstein College of Medicine, Bronx, NY, USA.
Dermietzel
R
R
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002875:Chromosomes / Q000235:genetics; D017630:Connexins; D017629:Gap Junctions / Q000473:pathology*; D009154:Mutation; D010523:Peripheral Nervous System Diseases / Q000235:genetics*
D017630:Connexins