Autism reversed in mice

Jun 26 2007

Scientists in the United States have been able to reverse the effects of autism in specially bred mice.

The scientists at Picower Institute for Learning and Memory at Massachusetts Institute of Technology used mice which were genetically altered to carry a gene that is most commonly found in children with autism.

Fragile X Syndrome (FXS), which is the leading inherited cause of mental retardation and the most common genetic cause of autism is linked to a mutated X chromosome gene called the fragile X mental retardation 1 (FMR1) gene; when mutated this gene can cause anything from mild learning disabilities to severe autism.

The FXS mice showed abnormalities similar to those in FXS patients, including hyperactivity, purposelessness, repetitive movements, attention deficits and difficulty with learning and memory.

When the enzyme P21-activated kinase (PAK) was inhibited in the study with the FXS mice, electrical communication between neurons in the brains of the mice were restored and their behavioral abnormalities were corrected.

The researchers suggest that by inhibiting PAK the debilitating symptoms of FXS in children could also possibly be countered.

Co-author Susumu Tonegawa, a Picower Professor of Biology and Neuroscience, says the results were intriguing because it suggests that PAK inhibitors could be used for therapeutic purposes to reverse already established mental impairments in fragile X children.

The study will be published in the online early edition of the Proceedings of the National Academy of Sciences.