Molecular Genetics & Genomic Medicine · 2019 · 33 citations · 16 references
Life SciencesGeneticsNeuroscienceAutism Spectrum DisordersBehavioral GeneticsIntellectual DisabilitiesGenetic DisordersIntellectual Developmental DisorderIntellectual Disability GeneticsLearning DisordersNeurodevelopmental DisordersNeurodevelopmental GeneticsFragile X Syndrome ModelsIntellectual Disability SyndromesKnockout Mouse ModelsMutationNeurocognitive DeficitsTransgenic Mouse ModelsX-linked Intellectual DisabilityX-linked Neurodevelopmental Disorders
BACKGROUND: The majority of individuals with fragile X syndrome (FXS) have intellectual disability, behavioral problems, autism, and language deficits. IQ typically declines with age in boys with the full mutation. The results of preclinical studies demonstrated that metformin, a biguanide used to treat type 2 diabetes, rescues multiple phenotypes of FXS in both Drosophila and mouse models. Preliminary studies of patients with FXS demonstrated improvements in behavior. METHODS: Here, we present two cases of individuals who have been treated with metformin clinically for one year. RESULTS: Both patients demonstrated significant cognitive and behavioral improvements. They also improved eating habits and normalization of their weight percentiles. CONCLUSION: Metformin may be a candidate drug for treatment of several types of symptoms in individuals with FXS.
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Effect of Metformin in Pediatric Patients With Type 2 Diabetes
Kenneth L. Jones, Silva Arslanian, Valentina A. Peterokova et al. · Diabetes Care · 2002 · 395 citations
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Metformin ameliorates core deficits in a mouse model of fragile X syndrome
Ilse Gantois, Arkady Khoutorsky, Jelena Popić et al. · Nature Medicine · 2017 · 238 citations · Full text