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Related Concept Videos

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Epigenetic Regulation01:37

Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
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Human Genetics

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.
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Gene-Environment Interactions

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Autism Spectrum Disorder01:19

Autism Spectrum Disorder

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.
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[Epigenetics' implication in autism spectrum disorders: A review].

M Hamza1, S Halayem2, R Mrad3

  • 1Service de pédopsychiatrie, hôpital Mongi Slim, Sidi Daoud, 2046 La Marsa, Tunisie; Université Tunis El Manar, faculté de médecine de Tunis, 5, rue Djebal-Lakhdhar, 1007 Tunis, Tunisie.

L'Encephale
|October 4, 2016
PubMed
Summary

Epigenetic modifications may mediate gene-environment interactions in autism spectrum disorders (ASD). Research highlights DNA methylation and histone changes, offering potential therapeutic targets for neurodevelopmental disorders.

Keywords:
Autism spectrum disordersDNA methylationEpigeneticsHistoneMéthylation ADNTroubles du spectre autistiqueÉpigénétique

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Area of Science:

  • Neuroscience and Genetics
  • Molecular Biology
  • Developmental Disorders

Background:

  • Autism spectrum disorders (ASD) have complex, multifactorial etiologies involving genetic and environmental factors.
  • Epigenetic modifications are proposed as mediators of gene-environment interactions in ASD.
  • Epigenetic mechanisms are implicated in stress susceptibility and psychiatric disorders.

Purpose of the Study:

  • To review current knowledge on the epigenetic hypothesis in ASD.
  • To summarize recent findings in the field of epigenetics and ASD.

Main Methods:

  • Systematic literature review using PubMed.
  • Keywords included: autism spectrum disorders, epigenetics, DNA methylation, and histone modification.

Main Results:

  • Epigenetics modulates gene expression without altering DNA sequence; key mechanisms include DNA methylation and histone modifications.
  • Evidence supports an epigenetic hypothesis in ASD, including associations with genetic diseases and altered expression of epigenetic regulation genes.
  • Studies show changes in DNA methylation of ASD candidate genes (e.g., OXTR, RELN, SHANK3) and broader DNA hypomethylation in autistic individuals.
  • Environmental factors (e.g., vitamin D, folate, valproate, BPA) can alter epigenetic marks.
  • Methodological limitations in epigenetic studies (e.g., sample type, confounding factors) challenge interpretation.

Conclusions:

  • Epigenetic discoveries are revolutionizing research into neurodevelopmental disorders.
  • Understanding epigenetic processes can integrate diverse factors contributing to autism.
  • Epigenetics may offer novel therapeutic targets for ASD.