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Related Concept Videos

Epigenetic Regulation01:37

Epigenetic Regulation

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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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Epigenetic Regulation01:46

Epigenetic Regulation

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Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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Capturing functional epigenomes for insight into metabolic diseases.

Fiona Allum1, Elin Grundberg2

  • 1Department of Human Genetics, McGill University, Montréal, Québec, H3A 0C7, Canada; McGill University and Genome Quebec Innovation Centre, Montréal, Québec, H3A 0G1, Canada.

Molecular Metabolism
|March 23, 2020
PubMed
Summary

Environmental and genetic factors drive metabolic diseases like obesity. Epigenetic marks, particularly DNA methylation, are crucial for understanding disease causes and progression.

Keywords:
Adipose tissueDNA methylationEpigenomicsMetabolic diseasesNext-generation sequencingRegulatory elements

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Area of Science:

  • Genetics
  • Epigenetics
  • Metabolic Diseases

Background:

  • Metabolic diseases, including obesity, result from complex interactions between environmental and genetic factors.
  • Genome-wide association studies (GWAS) have identified genetic variants but explain only a small fraction of heritability, often mapping to non-coding regions.
  • Linking genetic variants to function necessitates studying cellular traits like epigenetic marks in relevant tissues.

Purpose of the Study:

  • To review large-scale efforts in mapping epigenetic marks, focusing on DNA methylation.
  • To explore the utility of epigenetic maps in dissecting complex metabolic diseases.
  • To contrast DNA methylation profiling methods and highlight targeted approaches for single-base resolution.

Main Methods:

  • Review of large-scale genome-wide epigenetic mapping initiatives.
  • Comparative analysis of DNA methylation profiling techniques.
  • Emphasis on targeted methods for assessing methylation in tissue-specific regulatory regions.

Main Results:

  • Large-scale DNA methylation profiling in metabolic disease cohorts reveals the impact of epigenetic variants.
  • Epigenetic marks play a significant role in the etiology of metabolic diseases.
  • Tissue-specific epigenetic profiling is essential for understanding disease contributions.

Conclusions:

  • In-depth profiling of epigenetic marks at regulatory regions, especially tissue-specific elements, is critical.
  • Understanding epigenetic variations is key to dissecting the interplay of genetic and environmental factors in metabolic diseases.
  • Targeted DNA methylation assessments offer enhanced resolution for studying complex disease mechanisms.