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Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors
Laila C Schenkel1, David Rodenhiser2, Victoria Siu3
1Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Children's Health Research Institute, London, Ontario, Canada.
Journal of Pediatric Genetics
|February 10, 2017
Summary
Epigenetic disruption, not just DNA changes, causes many pediatric diseases. Environmental factors also play a role, influencing genetic traits in children.
Area of Science:
- Pediatric disease research
- Epigenetics and developmental biology
- Molecular genetics and epigenomics
Background:
- Over 4,000 known phenotypes have a partly understood molecular basis.
- While DNA structure defects are a primary cause of genetic disorders, epigenetic disruption is increasingly recognized.
- Epigenetic alterations contribute to congenital and developmental conditions, influenced by genetic and environmental factors.
Purpose of the Study:
- To review the role of epigenetics in pediatric diseases.
- To explore different classes of epigenomic disorders.
- To challenge the traditional DNA-RNA-protein dogma in understanding genetic traits.
Main Methods:
- Literature review of epigenomic disorders in pediatric populations.
- Analysis of genetic and environmental influences on epigenetic etiology.
- Synthesis of current understanding of epigenetics in congenital and developmental conditions.
Main Results:
- Epigenetic disruption is a significant mechanism in pediatric disease etiology.
- Both localized (in cis) and distant (in trans) genetic alterations can cause epigenetic defects.
- Environmental factors interact with genetic factors in the development of "epi/genetic" conditions.
Conclusions:
- Epigenetics plays a crucial role in a wide range of pediatric diseases.
- Understanding epigenetics broadens the perspective beyond simple DNA sequence.
- A comprehensive view including epigenetics is necessary to understand pediatric genetic traits.
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