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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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Histone Modification02:32

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The histone proteins have a flexible N-terminal tail extending out from the nucleosome. These histone tails are often subjected to post-translational modifications such as acetylation, methylation, phosphorylation, and ubiquitination. Particular combinations of these modifications form “histone codes” that influence the chromatin folding and tissue-specific gene expression.
Acetylation
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Genomic Imprinting and Inheritance02:30

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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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Phase II Reactions: Methylation Reactions01:17

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Methylation is a phase II biotransformation process involving the attachment of a methyl group to a substrate. Enzymes known as methyltransferases orchestrate this reaction.
The mechanism of methylation unfolds in two stages. The first stage sees a methyltransferase enzyme facilitating the transfer of a methyl group from S-adenosylmethionine (SAM) to the substrate, forming S-adenosylhomocysteine (SAH). The second stage involves further metabolism of SAH into homocysteine, which can be recycled...
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Master Transcription Regulators02:23

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Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a  complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...
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Related Experiment Video

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Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
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Relationship between DNA methylation changes and skeletal muscle mass.

Jeong-An Gim1, Sang-Yeob Lee2,3, Seung Chan Kim4

  • 1Department of Medical Science Research Center, College of Medicine, Korea University, Seoul, South Korea.

BMC Genomic Data
|August 31, 2023
PubMed
Summary

This study investigated epigenetic factors influencing sarcopenia, a disease affecting elderly muscle mass. It identified potential genes and pathways linked to muscle mass index adjustments, aiding future research.

Keywords:
DNA methylationDifferentially methylated regionsEpigeneticsMuscle mass indexSarcopenia

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Area of Science:

  • Gerontology and Genetics
  • Epigenetics and Molecular Biology

Background:

  • Sarcopenia is an age-related disease characterized by progressive muscle mass loss.
  • Extrinsic factors like diet, exercise, and lifestyle significantly influence sarcopenia development.
  • Epigenetic modifications play a crucial role in the complex etiology of sarcopenia.

Purpose of the Study:

  • To explore the relationship between muscle mass traits and epigenetically regulated genes.
  • To compare the effectiveness of three different muscle mass index (MMI) adjustment methods in epigenetic research.
  • To identify potential genes and pathways associated with sarcopenia using Korean Genome and Epidemiology Study (KOGES) data.

Main Methods:

  • Demographic study and DNA methylation profiling were conducted.
  • Three MMI adjustment methods were applied: MMI1 (vs. body weight), MMI2 (vs. height squared), and MMI3 (vs. BMI).
  • Differentially methylated regions (DMRs) were analyzed, followed by enrichment analysis using PathfindR.

Main Results:

  • Significant differences in BMI, waist, and hip measurements were observed across MMI adjustment groups.
  • Enrichment analysis revealed distinct pathway associations with sarcopenia depending on the MMI method and sex.
  • Specific pathways like glutamatergic synapse, adherens junction, Rap1 signaling, Fc epsilon RI signaling, and notch signaling were significantly enriched.

Conclusions:

  • The study highlights the importance of MMI adjustment methods in epigenetic research for sarcopenia.
  • Potential genes (GAB2, JPH3, HLA-DQB1, TBCD, NDUFB4, ISPD) impacting muscle mass were identified.
  • This nationwide Korean study provides a foundation for future epigenetic investigations into sarcopenia.