FXTAS: a bad RNA and a hope for a cure.
BACKGROUND
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a newly identified neurodegenerative disorder due to intermediate expansion of trinucleotide CGG repeats (55 - 200 repeats) in the 5' untranslated region (UTR) of the Fragile X mental retardation 1 (FMR1) gene. FXTAS is now considered to be one of the most common inherited neurodegenerative disorders in males.


OBJECTIVE
To examine the future of potential therapies for this late-onset disease.


METHODS
Examination of relevent literature.


CONCLUSIONS
Accumulating evidence indicates that overproduced riboCGG repeats in the 5' UTR of FMR1 mRNA are toxic. Recently, proteins that bind specifically to rCGG repeats were identified. Progress in understanding the molecular pathogenesis of FXTAS, plus the availability of different animal models are discussed.
Shan
Ge
G
Emory University School of Medicine, Department of Human Genetics, Atlanta, GA 30322, USA.
Xu
Shunliang
S
Jin
Peng
P
D000818:Animals; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000737:chemistry / Q000235:genetics*; D015316:Genetic Therapy / Q000639:trends; D006801:Humans; D012313:RNA / Q000737:chemistry / Q000235:genetics*; D013577:Syndrome; D014202:Tremor / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
D051860:Fragile X Messenger Ribonucleoprotein 1; D012313:RNA; C497683:FMR1 protein, human