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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.
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Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
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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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Related Experiment Video

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Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
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Genetic and epigenetic abnormalities in systemic sclerosis.

Takamitsu Makino1, Masatoshi Jinnin1

  • 1Department of Dermatology and Plastic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.

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Summary

Systemic sclerosis (SSc) involves complex genetics and environmental factors. Epigenetics offers insights into SSc development, paving the way for new treatments and biomarkers.

Keywords:
epigeneticgeneticmiRNAsclerodermasystemic sclerosis

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Area of Science:

  • Immunology
  • Genetics
  • Epigenetics

Background:

  • Systemic sclerosis (SSc) is an autoimmune connective tissue disease with unclear pathogenesis and treatment.
  • SSc pathogenesis involves genetic predisposition and environmental factors, leading to diverse clinical manifestations.
  • Epigenetic mechanisms, including DNA methylation and non-coding RNAs, may bridge genetic and environmental influences.

Purpose of the Study:

  • To explore the role of epigenetics in the context of genetic predisposition and environmental factors in Systemic Sclerosis.
  • To understand the complex molecular interactions underlying SSc pathogenesis and heterogeneity.
  • To identify potential novel therapeutic targets and biomarkers for SSc.

Main Methods:

  • Review of current literature on genetics, epigenetics, and environmental factors in Systemic Sclerosis.
  • Analysis of epigenetic modifications such as DNA methylation, histone modification, and non-coding RNAs (lncRNA, miRNA).
  • Investigation of the interplay between genetic background and environmental triggers in SSc development.

Main Results:

  • Epigenetic modifications are associated with environmental factors that can disrupt immune tolerance in genetically susceptible individuals.
  • Epigenetics provides a potential explanation for the heterogeneity observed in SSc clinical symptoms.
  • The interplay between genetics and epigenetics is crucial for understanding SSc pathogenesis.

Conclusions:

  • Epigenetic mechanisms are key to understanding the complex interplay between genetic and environmental factors in Systemic Sclerosis.
  • Further research into genetics and epigenetics will elucidate SSc pathogenesis and heterogeneity.
  • This understanding is expected to drive the development of novel SSc therapies and biomarkers.