UNRAVELING THE COMPLEX GENETIC ARCHITECTURE OF AUTISM SPECTRUM DISORDER: INSIGHTS INTO PATHOPHYSIOLOGY AND THERAPEUTIC IMPLICATIONS

Authors

  • Julia Coradin UNIDEP
  • Yasmin Vitória Carvalho de Castro Centro Universitário São Lucas
  • Fernanda Leal Caiado Faculdades Unidas do Norte de Minas
  • Afrânio Côgo Destefani EMESCAM
  • Vinícius Côgo Destefani DynMolLab

DOI:

https://doi.org/10.51891/rease.v10i8.15296

Keywords:

Autism Spectrum Disorder. Genetics. Genomics. Pathophysiology. Therapeutics.

Abstract

Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition with a significant genetic component. Recent advances in genomic technologies have revolutionized our understanding of the genetic architecture of ASD, revealing a complex interplay of common and rare variants, de novo mutations, and epigenetic factors. This narrative review synthesizes current knowledge on the genetic underpinnings of ASD, highlighting key biological pathways, brain regions, and cell types implicated in its pathophysiology. We discuss the challenges and opportunities for translating genetic findings into clinical practice and explore emerging therapeutic strategies targeting the underlying molecular mechanisms of ASD. By integrating insights from genetics, neurobiology, and translational research, we provide a comprehensive overview of the current state of knowledge and future directions in ASD research.

Author Biographies

Julia Coradin, UNIDEP

Centro Universitário de Pato Branco- UNIDEP.  

Yasmin Vitória Carvalho de Castro, Centro Universitário São Lucas

Centro Universitário São Lucas (Porto Velho/RO).

Fernanda Leal Caiado, Faculdades Unidas do Norte de Minas

Faculdades Unidas do Norte de Minas Funorte.

Afrânio Côgo Destefani, EMESCAM

Santa Casa de Misericórdia de Vitoria Higher School of Sciences - EMESCAM. Dynamics and Modeling Laboratory (DynMolLab.

Vinícius Côgo Destefani, DynMolLab

Molecular Dynamics and Modeling Laboratory (DynMolLab).

Published

2024-08-21

How to Cite

Coradin, J., Castro, Y. V. C. de, Caiado, F. L., Destefani, A. C., & Destefani, V. C. (2024). UNRAVELING THE COMPLEX GENETIC ARCHITECTURE OF AUTISM SPECTRUM DISORDER: INSIGHTS INTO PATHOPHYSIOLOGY AND THERAPEUTIC IMPLICATIONS. Revista Ibero-Americana De Humanidades, Ciências E Educação, 10(8), 2421–2429. https://doi.org/10.51891/rease.v10i8.15296