Health In Focus
  • Fragile X syndrome is an inherited intellectual disability that can cause some forms of autism
  • Commonly used diabetes drug Metformin can be used to treat symptoms of Fragile X syndrome, finds a new study
  • Metformin improved social, behavioral and morphological defects associated with Fragile X syndrome

An international research team has found another possible use of the widely used diabetes drug called metformin. It can be used to treat symptoms of Fragile X syndrome, which is a cause of some forms of autism.

Metformin can Treat Autism-Associated Condition

The study was conducted by research teams from McGill University, the University of Edinburgh and Université de Montréal. The research team conducted the study to find out whether metformin can improve the symptoms associated with autism.

The study was conducted on Fragile X syndrome suffering mice. Animals with Fragile X syndrome show symptoms of decreased socialization.
Diabetes Drug Metformin can Treat Symptoms of Autism-Associated Condition

Metformin - 'The Wonder Drug'

In the last three decades, metformin has been extensively used as a therapy for type 2 diabetes. The safety and tolerability of metformin are well documented. In the recent past, studies have been conducted on metformin to treat cancer, cardiovascular diseases, neurological diseases and aging.

The research team conducted the study to see the effect of metformin in treating symptoms associated with Fragile X syndrome. Metformin was injected in the mice with Fragile X syndrome. The research team found that metformin restores some of the molecular pathways disrupted in the absence of FMR1. The findings of the study published in Nature Medicine, showed normal brain connections and behavioral patterns after 10 days of injection with metformin.

Metformin could be used to treat other autism spectrum disorders, said, Ilse Gantois, a research associate in Sonenberg's lab at McGill. In further studies, the research team hopes to understand the drug's exact role in these pathways.

Nahum Sonenberg, James McGill Professor at McGill's Biochemistry Department and co-senior author of the new study said the findings offer hope for patients with Fragile X syndrome. "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."

"The safety and efficacy of metformin is well-documented which makes the drug an ideal candidate for fast-tracked clinical trials and, if all goes well, a readily available drug for the treatment of Fragile X syndrome,"
added Jean-Claude Lacaille, Canada Research Chair in Cellular and Molecular Neurophysiology and professor in the Department of Neurosciences at Université de Montréal and a major collaborator on the study.

"We mostly looked at the autistic form of behavior in the Fragile X mouse model. We want to start testing other mouse models to see if the drug could also have benefits for other types of autism," explained Gantois.

"It is a simple story in terms of the description of the corrections allowed by the drug," said Sonenberg. The molecular mechanism of how metformin exactly works is complicated. The research team is yet to find the molecular interaction of metformin and whether the cellular functions are affected. The team also hopes to improve the efficacy of metformin drug to treat the condition.

Fragile X Syndrome

Fragile X syndrome is an inherited form of intellectual disability caused by defects in the Fragile X Mental Retardation 1 gene (FMR1). The FMR1 triggers the excess production of protein in the brain, dysregulate the connections between neurons and contribute to behavioral changes.

Fragile X syndrome can lead to impairments in speech, language, behavior and social interaction. This syndrome affects 1 in 5,000 boys and 1 in 6,000 girls. Fragile X is co-diagnosed with autism, anxiety disorders, sleep disorders and seizures.

Individuals with Fragile X Syndrome may be affected by both behavioral and medical conditions. Studies suggest that Fragile X syndrome can increase the risk of obesity. Patients with this syndrome are likely to overeat due to lack of satiation that results in morbid obesity. Metformin could be a targeted treatment for Fragile X syndrome. As metformin has a strong profile in children and adults with diabetes and obesity, it could be a targeted treatment for cognitive and behavioral concerns.

References :
  1. Metformin as Targeted Treatment in Fragile X Syndrome - (
  2. Ilse Gantois, Arkady Khoutorsky, Jelena Popic, Argel Aguilar-Valles, Erika Freemantle, Ruifeng Cao, Vijendra Sharma, Tine Pooters, Anmol Nagpal, Agnieszka Skalecka, Vinh T Truong, Shane Wiebe, Isabelle A Groves, Seyed Mehdi Jafarnejad, Clément Chapat, Elizabeth A McCullagh, Karine Gamache, Karim Nader, Jean-Claude Lacaille, Christos G Gkogkas, Nahum Sonenberg. Metformin ameliorates core deficits in a mouse model of fragile X syndrome. Nature Medicine, 2017; DOI: 10.1038/nm.4335
Source: Medindia

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