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Related Concept Videos

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

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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.
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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders01:27

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Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
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A Neurodevelopmental Perspective for Autism-Associated Gene Function.

Jessie Poquérusse1, Bryan W Luikart1

  • 1Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth College, Lebanon, NH 03756, USA.

OBM Neurobiology
|April 21, 2022
PubMed
Summary
This summary is machine-generated.

Genetic mutations linked to autism spectrum disorder (ASD) impact crucial brain development stages. These genes are vital from early patterning to synapse formation, offering insights into ASD

Keywords:
ASDAutsimDDDevelopmental delayDifferentiationExcitabilityMigrationNeuronSynapse

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Autism spectrum disorder (ASD) is associated with numerous genetic mutations.
  • Understanding the neurodevelopmental functions of these genes is key to deciphering ASD's origins.

Purpose of the Study:

  • To categorize 100 high-confidence ASD-associated genes based on their roles in neurodevelopmental processes.
  • To compare ASD gene categorization with genes linked to developmental delay (DD).
  • To review the literature and analyze temporal gene expression patterns to support a neurodevelopmental model of ASD.

Main Methods:

  • Defined five functional categories of brain development: Cell Division/Survival, Cell Migration/Differentiation, Neuronal Morphological Elaboration, Cellular Excitability, and Synapse Formation/Function.
  • Categorized 100 high-confidence ASD genes using keyword searches across PubMed literature.
  • Compared ASD gene categorization with DD genes and analyzed temporal expression using the BrainSpan Atlas.

Main Results:

  • ASD-associated genes play significant roles across the entire neurodevelopmental continuum.
  • Temporal expression patterns confirm gene functions throughout brain development.
  • Evidence supports a model where disruptions in neurodevelopment, from early patterning to synaptic sculpting, contribute to ASD.

Conclusions:

  • ASD arises from disruptions in neurodevelopmental processes, involving genes active from early to late stages.
  • Further research into mechanistic convergence is needed to understand the common pathophysiology underlying diverse ASD-associated genes.