Targeted Upregulation of FMRP Expression as an Approach to the Treatment of Fragile X Syndrome
Annual rept. 1 August 2013 31 July 2014
CALIFORNIA UNIV DAVIS
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The most significant accomplishment during the current funding period is the demonstration that blocking specific interactions between microRNAs and the 3 noncoding portion of the fragile X FMR1 gene leads to increased FMR1 protein production. Reduced levels of FMRP are responsible for the leading heritable form of intellectual disability, fragile X syndrome. The development of a means for increasing FMRP levels raises the expectation of a therapeutic approach for correcting all of the clinical domains of fragile X syndrome, including epileptiform activity observed for both those with FXS and carriers of smaller CGG-repeat expansions. The short-term outcomes of the proposed research are therapeutic targets for upregulation of FMRP, and the demonstration that such upregulation ameliorates the dysregulation caused by FMRP deficiency. Low FMRP is also found in some patients with autism and other psychiatric problems without FXS, so the long-term therapeutic implications of this research go far beyond FXS.
- Genetic Engineering and Molecular Biology
- Medicine and Medical Research