An epigenetic view of developmental diseases: new targets, new therapies

World J Pediatr. 2016 Aug;12(3):291-297. doi: 10.1007/s12519-016-0020-3. Epub 2016 Jun 29.

Abstract

Background: Function of epigenetic modifications is one of the most competitive fields in life science. Over the past several decades, it has been revealed that epigenetic modifications play essential roles in development and diseases including developmental diseases. In the present review, we summarize the recent progress about the function of epigenetic regulation, especially DNA and RNA modifications in developmental diseases.

Data sources: Original research articles and literature reviews published in PubMed-indexed journals.

Results: DNA modifications including methylation and demethylation can regulate gene expression, and are involved in development and multiple diseases including Rett syndrome, Autism spectrum disorders, congenital heart disease and cancer, etc. RNA methylation and demethylation play important roles in RNA processing, reprogramming, circadian, and neuronal activity, and then modulate development.

Conclusions: DNA and RNA modifications play important roles in development and diseases through regulating gene expression. Epigenetic components could serve as novel targets for the treatment of developmental diseases.

Keywords: 5-hydroxymethylcytosine; DNA modification; RNA modification; congenital heart disease; development; neurological disorders.

Publication types

  • Review

MeSH terms

  • Autism Spectrum Disorder / genetics
  • Autism Spectrum Disorder / physiopathology
  • Autism Spectrum Disorder / therapy
  • Child, Preschool
  • DNA Methylation*
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / physiopathology
  • Developmental Disabilities / therapy*
  • Epigenesis, Genetic*
  • Female
  • Forecasting
  • Genetic Therapy / methods
  • Genetic Therapy / trends*
  • Heart Defects, Congenital / genetics
  • Heart Defects, Congenital / physiopathology
  • Heart Defects, Congenital / therapy
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • RNA / genetics

Substances

  • RNA