Autism Spectrum Disorder (ASD), a developmental disorder that affects brain function, is influenced by both genetic and environmental factors, with symptoms often emerging in early childhood, according to a recent study by the Rajiv Gandhi Centre for Biotechnology (RGCB). Published in the journal iScience, the research identifies a novel mutation in the Tlx3 gene that disrupts cerebellum development and is linked to autism.
Led by Dr. Jackson James, the study found that deletion of the Tlx3 gene in genetically modified mice caused significant cerebellar dysfunction. As the mice matured, they exhibited classic autistic traits, including social deficits, repetitive behaviors, and motor coordination problems. Collaborating with the Council of Scientific and Industrial Research–Institute of Genomics and Integrative Biology (CSIR-IGIB), the team identified similar mutations in humans, linked to nine ASD cases and other neurodevelopmental disorders.
Dr. James emphasized the need for global cohort analysis to understand the mutation’s frequency and its impact on different populations. RGCB Director, Prof. Chandrabhas Narayana, noted the importance of the study in addressing autism, a growing challenge in India with significant social and medical implications.
Narayana stated, “Autism is a serious childhood issue worldwide. In India, it has also emerged as a significant challenge for researchers and the medical fraternity due to its wide social and medical ramifications. The RGCB study provides new insights into this behavioural disorder.” ASDs lead to behavioural deficits, including lack of social cognition and restricted or repetitive behaviours, desires, communication, or actions in individuals.
The findings underscore how genetic mutations, specifically in early developmental genes, contribute to the onset of ASD, offering new avenues for research into early diagnosis and potential therapies.
