Fragile X syndrome medical therapy
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Fragile X syndrome Microchapters |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Treatment and current research
Recent studies have focused on a number of critical areas. The role of FMRP's RNA partners, many of which have now been validated through in vitro assays, is of primary importance. Also being examined is the function the various domains of FMRP, an RNA-binding protein, which is still relatively unknown. One hypothesis is that many symptoms are caused by unchecked activation of mGluR5, a metabotropic glutamate receptor, which was found in a 2007 study to contribute significantly to the pathogenesis of the disease;[1] this suggests that mGluR5 blockers could be used to treat fragile X syndrome.[2]
While there is no current cure for the syndrome, there is hope that further understanding of its underlying causes would lead to new therapies. Currently, the syndrome can be treated through behavioral therapy, special education, medication, and when necessary, treatment of physical abnormalities. Persons with the fragile X syndrome in their family histories are advised to seek genetic counseling to assess the likelihood of having children who are affected, and how severe any impairments may be in affected descendants.
Researchers at the Picower Institute for Learning and Memory at MIT have reversed symptoms of mental retardation and autism in mice.[3]
References
- ↑ Dölen G, Osterweil E, Rao BS; et al. (2007). "Correction of fragile X syndrome in mice". Neuron. 56 (6): 955–62. doi:10.1016/j.neuron.2007.12.001. PMID 18093519.
- ↑ Highfield R (2007-12-19). "Fragile X study offers hope for autism treatment". Daily Telegraph. Retrieved 2007-12-22.
- ↑ MIT researchers reverse symptoms in mice of leading inherited cause of mental retardation