Work

FXTAS: a bad RNA and a hope for a cure

Year: 2008

Type: article

Abstract: 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. RESULTS/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.

Source: Expert Opinion on Biological Therapy

DOI: 10.1517/14712598.8.3.249

Authors: Ge Shan, Shunliang Xu, Peng Jin

Institutions: Emory University, Shandong University, Second Hospital of Shandong University

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institute of Mental Health, National Institute of Neurological Disorders and Stroke