WALNUT CREEK, Calif., Dec. 8 The National Fragile X Foundation has awarded a translational research seed grant of $100,000 to Dr. Randi J. Hagerman at the UC Davis M.I.N.D. Institute in California for a study of minocycline in the treatment of children with fragile X syndrome (FXS). Hagerman is an internationally recognized clinician and clinical researcher on FXS, the most common cause of inherited mental impairment.
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The two-year study will evaluate the efficacy of minocycline for children ages 4-13 years with FXS. Hagerman's goal is to provide sufficient data to ultimately submit a larger multi-center minocycline controlled trial in children with FXS that could involve centers associated with the Fragile X Clinical & Research Consortium. Recent lab findings have demonstrated improvement in synaptic connections, behavior and even some aspects of cognition with minocycline treatment. Minocycline, a commonly used antibiotic, is currently used to treat bacterial infections, including pneumonia and other respiratory tract infections; acne; and infections of skin, genital, and urinary systems. Preliminary data described in the proposal suggests minocycline will be beneficial to children with FXS. Hagerman's grant compliments a study in Canada of minocycline in older individuals and could ultimately lead to this drug becoming a significant treatment for FXS.
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FXS is caused by a change or mutation in a gene that is inherited at the time of conception. Called the FMR1 gene, it is found on the X chromosome. When this gene change occurs, the FMR1 gene does not work properly. The FMR1 gene is responsible for making a protein that is important in brain development. Therefore, when the gene is not working properly, brain function, including learning, behavior and communication, is affected. Normally, the FMR1 gene produces an important protein called FMRP. When the gene is turned off, the individual does not make the protein. The lack of this specific protein causes FXS. An important protein that is unregulated in the absence of FMRP is matrix metalloproteinase 9 (MMP9), which has a role in synaptic plasticity. The high level of MMP9 activity leads to immature dendritic spines in mice. Minocycline lowers MMP9 levels and this promotes the formation and induces the maturation of dendritic spines in mice. When newborn mice were treated with minocycline, researchers documented rescue of the dendritic spine deficits and improvement in anxiety along with more strategic exploratory behavior (Bilousova et al., 2008).
The NFXF supports translational research designed to bring research discoveries to those impacted by FXS in the shortest time possible. In addition, the NFXF has been promoting awareness of, and providing support and education for FXS since 1984.
Visit fragilex.org for more information.
SOURCE The National Fragile X Foundation
