Correlation of mutated gene and signalling pathways in ASD

Madhavi Apte1, Aayush Kumar2

  • 1Quality Assurance and Pharmacognosy and Phytochemistry, SVKM's Dr. Bhanuben Nanavati College of Pharmacy, Vile Parle, 400056 Mumbai, India.

Insights

Autism spectrum disorder involves complex genetics affecting brain development and cognition. This review explores genetic factors, protein roles, and therapeutic approaches like cognition-behavior therapy for autism.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Psychology

Background:

  • Autism spectrum disorder (ASD) is a neurodevelopmental condition affecting social interaction and communication, with global prevalence.
  • In India, over 18 million individuals are diagnosed with ASD.
  • Worldwide, 1 in 160 children have ASD, highlighting its significant public health impact.

Purpose of the Study:

  • To review the complex genetic architecture underlying autism spectrum disorder.
  • To summarize the roles of specific proteins implicated in ASD development.
  • To examine how genetic mutations impact brain circuitry and cognitive development, including theory of mind.

Main Methods:

  • Literature review of genetic studies on autism.
  • Analysis of protein functions related to neurodevelopment.
  • Exploration of signaling pathways affected by genetic mutations.
  • Review of cognitive development and theory of mind research in ASD.

Main Results:

  • Autism is characterized by a complex genetic basis influencing neurodevelopment.
  • Specific proteins and convergent signaling pathways are critical in ASD pathogenesis.
  • Genetic mutations can disrupt brain circuitry development, impacting cognition and social understanding.

Conclusions:

  • Understanding the genetic and molecular underpinnings of ASD is crucial for developing targeted interventions.
  • Cognition-behavior therapy shows promise in addressing cognitive and behavioral challenges in individuals with autism.
  • Further research into genetic factors and their impact on brain development is essential for improving outcomes for those with ASD.

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