Diabetes drug could help autism symptoms in fragile X syndrome children

Dr Christos Gkogkas and colleagues in the Patrick Wild Centre and Centre for Integrative Physiology have found that a commonly used diabetes drug, Metformin, has the potential to help people with a common inherited form of autism (fragile X syndrome).

Fragile X syndrome (FXS) is the most common known cause of inherited intellectual disability affecting around 1 in 4,000 boys and 1 in 6,000 girls. Affected children have developmental delays that impair speech and language, problems with social interactions and are often co-diagnosed with autism, anxiety and seizures. FXS is caused by inherited defects in the FMR1 gene and mice engineered to express the mutated FMR1 gene have an excess of protein in the brain which leads to a breakdown in synaptic connections and changes in behaviour.

A team of researchers led by Dr Christos Gkogkas from the Patrick Wild Centre (University of Edinburgh) and McGill University, Canada, found that treating FMR1 mice with the diabetes drug metformin for 10 days reduced levels of protein production in the brain to normal levels, repaired neuronal connections, led to a reduction in seizure occurance, and restored the increased grooming and reduced social interaction behaviour usually displayed by FMR1 mice to normal patterns.

The study published in Nature Medicine was co-authored by Gkogkas lab members Dr Tine Pooters (postdoc) and Isabelle Groves (MSc Integrative Neuroscience student).

Dr Christos Gkogkas, Chancellor’s Fellow at the University of Edinburgh’s Patrick Wild Centre, said: “Metformin has been extensively used as a therapy for type 2 diabetes for more than 30 years, and its safety and tolerability are well documented. Our study suggests the drug could be a novel therapeutic for Fragile X syndrome, a common type of autism. We next plan to investigate whether metformin offers any benefits for other types of autism.”

Dr Nahum Sonenberg, James McGill Professor at McGill University’s Biochemistry Department, commented: “This is some of the most exciting research work in my career, as it offers great promise in treating a pernicious genetic disease for which there is no cure.”

Dr Andrew Stanfield, Co-director of the Patrick Wild Centre for Research into Autism, Fragile X Syndrome and Intellectual Disabilities, said: “'These findings are particularly important as metformin is a commonly used drug for other conditions so we already know a lot about its safety profile. If clinical trials in people with Fragile X syndrome are successful then it could be in use much more quickly than would be the case for a brand new medication.”