Autism, a developmental disorder characterized by functional abnormalities in brain development, arises from a combination of environmental and genetic factors, with symptoms often appearing by age two. The complexities of Autism Spectrum Disorder (ASD) include single gene mutations in early development genes.
A recent study conducted by the BRIC-Rajiv Gandhi Centre for Biotechnology (RGCB) has identified a novel mutation in the Tlx3 gene associated with abnormal cerebellum development, a critical brain region responsible for balance, motor movement, and complex functions.
Dr. Jackson James and his research team at RGCB published their findings in the journal iScience. They found that deleting the Tlx3 gene from the cerebellum of transgenic mouse embryos affects cerebellar coordination. As these mice matured, they exhibited traits of autistic behavior, such as social skill deficits, repetitive behaviors, and impaired motor functions.
In collaboration with the Council Of Scientific And Industrial Research-Institute Of Genomics And Integrative Biology (CSIR-IGIB) in New Delhi, the RGCB team examined the potential occurrence of this mutation in humans. They identified TLX3 mutation variants linked to nine ASD cases and other neurodevelopmental disorders.
Dr. James emphasized the need for a genome-wide global cohort analysis to evaluate the frequency of the TLX3 mutation and its association with specific populations, including Indians. The findings suggest that improper regulation of this early embryonic gene may lead to ASDs in childhood.
RGCB Director Prof. Chandrabhas Narayana remarked, 'Autism is a serious childhood problem across the world. In India, it presents a significant challenge for researchers and the medical community, given its wide social and medical implications. The RGCB study will provide new insights into this behavioral disorder.'
ASDs are associated with behavioral deficits, including impaired social cognition and restricted or repetitive behaviors, desires, communication, or actions in affected individuals.