Related Experiment Video
Updated: Aug 1, 2025
08:30
Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
Published on: September 6, 2024
1.8K
Correlation of mutated gene and signalling pathways in ASD
1Quality Assurance and Pharmacognosy and Phytochemistry, SVKM's Dr. Bhanuben Nanavati College of Pharmacy, Vile Parle, 400056 Mumbai, India.
IBRO Neuroscience Reports
|April 27, 2023
Summary
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.
Related Concept Videos
01:19Autism Spectrum Disorder
176
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
176
01:19Interactions Between Signaling Pathways
6.3K
Signaling cascades usually lack linearity. Multiple pathways interact and regulate one another, allowing cells to integrate and respond to diverse environmental stimuli.
Convergence and divergence, and cross-talk between signaling pathways
Two distinct signaling pathways can converge on a single functional unit, which may either be a single protein or a complex of proteins. The response is either functionally distinct or synergistic between the two pathways but different from the response...
Convergence and divergence, and cross-talk between signaling pathways
Two distinct signaling pathways can converge on a single functional unit, which may either be a single protein or a complex of proteins. The response is either functionally distinct or synergistic between the two pathways but different from the response...
6.3K
03:03mTOR Signaling and Cancer Progression
3.8K
The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
The mTOR pathway or the...
3.8K
03:14Notch Signaling Pathway
4.3K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
4.3K
01:20The JAK-STAT Signaling Pathway
9.0K
Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as SH2...
9.0K
01:07MAPK Signaling Cascades
5.7K
Mitogen-activated protein kinase, or MAPK pathway, activates three sequential kinases to regulate cellular responses such as proliferation, differentiation, survival, and apoptosis. The canonical MAPK pathway starts with a mitogen or growth factor binding to an RTK. The activated RTKs stimulate Ras, which recruits Raf or MAP3 Kinase (MAPKKK), the first kinase of the MAPK signaling cascade. Raf further phosphorylates and activates MEK or MAP2 Kinases (MAPKK), which in turn phosphorylates MAP...
5.7K