X-CHROMOSOME INACTIVATION AS A PROTECTIVE FACTOR IN AUTISM SPECTRUM DISORDER: ADVANCES IN MOLECULAR GENETICS
DOI:
https://doi.org/10.63330/aurumpub.061-041Keywords:
Autism Spectrum Disorder, Epigenetics, Molecular Genetics, Neurodevelopment, X Chromosome InactivationAbstract
X chromosome inactivation as a protective factor in Autism Spectrum Disorder (ASD) represents an important field of investigation in molecular genetics, as it may help explain the lower prevalence of the disorder in females compared with males. This study is a Literature Review aimed at analyzing advances in molecular genetics related to the process of X chromosome inactivation and its possible influence on susceptibility to ASD. The methodology was based on the selection and analysis of scientific articles published in national and international databases, with emphasis on recent studies addressing genetics, epigenetics, gene expression, and chromosomal compensation mechanisms associated with the disorder. The findings indicate that X chromosome inactivation, although a physiological process in females, may modulate the expression of genes involved in neurodevelopment, thereby reducing the phenotypic impact of pathogenic variants associated with ASD. Furthermore, epigenetic factors and mechanisms of escape from X chromosome inactivation appear to play a significant role in the clinical variability observed between sexes. It is concluded that advances in molecular genetics have expanded the understanding of the biological mechanisms underlying ASD, supporting the female protective effect hypothesis and contributing to the development of more accurate and personalized diagnostic and therapeutic strategies.
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