Thiruvananthapuram: Autism, a developmental disorder that causes functional abnormalities in brain development, is influenced by a combination of genetic and environmental factors, with symptoms appearing in early childhood, according to a study by the Rajiv Gandhi Centre for Biotechnology on Monday. The complexities of Autism Spectrum Disorder (ASD) include single-gene mutations in early developmental genes, with symptoms often manifesting as early as the age of two, the study noted, as per an RGCB release.
The latest study, led by Dr Jackson James and his team at BRIC-RGCB, has been published in the prestigious journal iScience.
The research identified a novel mutation in the Tlx3 gene linked to abnormal cerebellum development-a major region of the hindbrain responsible for balance, motor coordination, and other complex functions-and autism, the release said.
The study demonstrated that deleting the Tlx3 gene in the cerebellum of a transgenic mouse embryo (genetically modified through engineering techniques) disrupts cerebellar function. When these embryos were allowed to develop into adulthood, the mice exhibited hallmark autistic traits, including social skill deficits, repetitive behaviours, and motor function abnormalities, the release added.
In collaboration with the Council of Scientific and Industrial Research-Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, the RGCB team assessed the prevalence of this mutation in humans. They identified TLX3 mutation variants linked to nine ASD cases and other co-morbid neurodevelopmental conditions.
Dr James emphasised the need for a genome-wide global cohort analysis to determine the frequency of this TLX3 mutation and its association with specific populations, such as Indians and others.
These findings highlight how dysregulation of this embryonic gene contributes to ASD in early childhood, the release said.
RGCB Director Prof Chandrabhas 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 release said.
