Fragile X tremor/ataxia syndrome: blame the messenger!
rCGG repeats in premutant alleles of the fragile X gene (FMR1) cause neurodegeneration in Drosophila and are thought to cause fragile X-associated tremor/ataxia syndrome in humans. Two reports in this issue of Neuron (Jin et al. and Sofola et al.) present data indicating a disease mechanism involving disruption of RNA-binding protein function.
Swanson
Maurice S
MS
Department of Molecular Genetics and Microbiology, University of Florida, College of Medicine, Cancer Genetics Research Complex, 1376 Mowry Road, Gainesville, FL 32610-3610, USA. orrxx002@umn.edu
Orr
Harry T
HT
D000818:Animals; D029721:Drosophila Proteins / Q000235:genetics; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000150:complications / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008954:Models, Biological; D019636:Neurodegenerative Diseases / Q000209:etiology / Q000235:genetics / Q000378:metabolism; D016601:RNA-Binding Proteins / Q000235:genetics / Q000378:metabolism*
D029721:Drosophila Proteins; D051860:Fragile X Messenger Ribonucleoprotein 1; D016601:RNA-Binding Proteins; C467328:FMR1 protein, Drosophila