The portrayal of Rizwan Khan, played by Shah Rukh Khan in the movie My Name is Khan, highlighted some of the common behaviours autistic people exhibit. Rizwan’s character was socially shy and unable to pick emotional cues while exhibiting a repeated need for order and routine.
Autism spectrum disorder (ASD) is a developmental disorder that typically manifests in early childhood, with some signs appearing as early as nine months of age. However, it can also be diagnosed later in life. Early detection and intervention can make a difference in the lives of those with ASD.
For instance, Pune-resident Amit Mandora noticed his one-and-a-half-year-old son Vivaan was missing some developmental landmarks.
“My son was missing his milestones and showed developmental issues like not sitting and standing at the appropriate age,” says Mandora. “We consulted many doctors, but nothing concrete came out of it,” he adds. Besides, Vivaan also had epileptic seizures.
At a doctor’s suggestion, Mandora conducted a genetic test and found that his son was carrying a rare mutation in a gene called Syngap1. The test helped confirm Vivaan’s autism.
The gap in SynGAP
Syngap1 gene provides instructions to produce a protein called SynGAP, which is important for the proper functioning of synapses (connections between neurons) in the brain. SynGAP is essential for synaptic plasticity, which is necessary for memory, learning, and neural network formation.
The genetic cause of autism spectrum disorders, epilepsy, and mood disorders relates to Syngap1 mutations, accounting for about 1-2 per cent of intellectual disability cases.
Changes in the Syngap1 gene can disrupt the function of the SynGAP protein in various ways, potentially contributing to the different manifestations of autism in individuals. Scientists believe that understanding the link between this gene and ASD could help in the development of interventions for the autism.
6BIO knocking at the door with hope
Mandora sought answers and solutions to improve his son’s quality of life and discovered Dr James Clement’s research group at the Jawaharlal Nehru Centre for Advanced Scientific Research (JNCASR), Bengaluru, which has been working on Syngap1 mutations for over a decade.
The group made a serendipitous discovery of a molecule that showed promise in alleviating the symptoms of autism.
They conducted experiments in mouse model of autism which does not have one allele of a gene, Syngap1, similar to humans, focusing on two aspects of neuron communication in the dentate gyrus region of the hippocampus.
- Synaptic changes cause an imbalance of excitation and inhibition in neurons, causing autism-like symptoms.
- Whether the introduction of a small molecules after the brain is considered to be developed could help restore the balance in neuron communication.
They observed that the gene mutation was causing a build-up of ions between neurons, changing the excitation and inhibition of the synapses, thereby affecting their function.
To counteract this build-up and restore function, they administered a small chemical molecule called 6BIO to the mice. They found that 6BIO was able to cross the blood-brain barrier and inhibit the excess ions activity in the synapses. “We carried out behavioural experiments [to check the effect of the molecule], and it restored the function to a normal level,” explains Dr Clement.
They observed that the gene mutation was causing a build-up of a specific ions that disrupts the neuronal function by changing the excitation and inhibition of the synapses.
Reality check
Mandora remains optimistic about Dr Clement’s discovery and continues to collaborate with him to understand the molecule’s potential in alleviating autistic symptoms.
Dr Clement acknowledges the challenge of finding a compound with minimal side effects in drug discovery and anticipates the molecule will be formulated as a pill within the next 10 to 15 years.
“We are filing for patents and working with pharma companies to pick up the compound to take it to clinical trials. As researchers, we are continuing to explore the effects of the 6BIO at a molecular level and to understand how it works in brain cells,” says Dr Clement.
While more therapies emerge, the most significant change is when people on the spectrum are ‘raised by a village’. This implies the importance of social support for neurodivergent individuals–an aspect well depicted by the women in My Name is Khan.
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