New Evidence Links Brain Mutation With Autism and Other Disorders


The findings published in “Nature Communications” on July 15, 2015, show the degree to which a mutation connected with epilepsy and autism plays a role in the impairment of a brain’s biochemical process. The researchers at University of Bristol led the study, which may offer a new target for the treatment of neurological diseases.

The brain has a huge number of neurons that communicate through releasing chemicals at specific connections known as synapses. For every nerve cell, a thousand synaptic connections are possible with a hundred other neurons. Synapsin 1a, a protein, plays a major role in the regulation of the way synapses work, by regulating chemical transmission amount.

Brain mutation linked to autism

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Mutation may lead to Neurological Disorder:

In a chemical procedure known as SUMOylation, a protein, SUMO, gets joined with a target protein, bringing changes in its function. The researchers involved in the study of SUMOylation in brain, found synapsin 1a to be one target protein in the process of SUMOylation. They found also that mutation in the synapsin 1a known as A548T that has been linked to epilepsy and autism already, lowers synapsin 1a SUMOylation. It also creates problems in its functioning ability, leading to impaired synaptic functioning, which may result in neurological disorder.

Jeremy Henley, lead author of the study, and Professor of “Molecular Neuroscience”, at the School of Biochemistry of the University in “Faculty of Medical and Veterinary Science”, stated, “These results show the extent and how critical the role synaptic proteins regulated by SUMOylation play in neurological disorders. Importantly, they provide further evidence for SUMO modification of synaptic proteins in health and disease.”

Research is continuously being done to find out the exact cause behind Autism Spectrum Disorders (ASD). Along with that, scientists are also trying to find the right treatment for autism. Several interventions and therapies are used for the treatment of the disorder. As per the NIH (National Institutes of Health), some of the treatment options for the disorder are:

  • Behavioral Management Therapy
  • Physical Therapy
  • Early Intervention
  • Social Skills Training
  • Cognitive Behavior Therapy

Hyperbaric Oxygen Therapy (HBOT) is an alternative treatment for autism, which is not approved by FDA for treating it, but several parents have stated that the therapy has shown beneficial effects for their autistic children.


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