Balancing between adaptive and maladaptive cellular stress responses in peripheral neuropathy.
Point mutations in "myelin genes" result in a spectrum of inherited demyelinating neuropathies. The understanding of the pathomechanisms by which these mutations produce phenotypes remains limited. In this issue of Neuron, Wrabetz and colleagues report that the unfolded protein response (UPR) is responsible for demyelination in a Charcot-Marie-Tooth disease type 1B (CMT1B) mouse model. Deletion of the UPR mediator transcription factor CHOP completely rescues the motor deficit and ameliorates the neuropathy phenotype.
Khajavi
Mehrdad
M
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Lupski
James R
JR
D000818:Animals; D003711:Demyelinating Diseases; D004195:Disease Models, Animal; D051379:Mice; D018993:Myelin P0 Protein / Q000502:physiology*; D010523:Peripheral Nervous System Diseases / Q000235:genetics / Q000503:physiopathology*; D017510:Protein Folding
D018993:Myelin P0 Protein