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Making choices-how stochastic decisions determine disease progression
1Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20814, USA.
Genes & Development
|March 6, 2016
Summary
Epigenetic marks, established randomly during early development, cause distinct gene expression in similar cells. This explains varied phenotypes in Russell-Silver syndrome and other imprinting disorders.
Area of Science:
- Developmental biology
- Epigenetics
- Genetics
Background:
- Russell-Silver syndrome (RSS) is a growth disorder with variable clinical presentations.
- Imprinting disorders often exhibit complex phenotypes, even with similar genetic backgrounds.
Purpose of the Study:
- To investigate the molecular mechanisms underlying phenotypic variability in Russell-Silver syndrome.
- To explore the role of epigenetic modifications in establishing distinct cellular gene expression patterns during early development.
Main Methods:
- Utilized a mouse model for Russell-Silver syndrome.
- Analyzed gene expression patterns in similar cells within individual mice.
- Investigated epigenetic marks associated with stochastic gene expression.
Main Results:
- Demonstrated that epigenetic marks, established stochastically, lead to divergent gene expression profiles in otherwise similar cells.
- Showcased cellular heterogeneity in gene expression within a single individual.
- Linked these epigenetic variations to the observed phenotypic variability in the RSS mouse model.
Conclusions:
- Epigenetic stochasticity during early development is a key driver of cellular heterogeneity and phenotypic diversity in imprinting disorders like RSS.
- Provides a mechanistic explanation for why individuals with identical or similar genetic mutations can present with distinct disease profiles.
- Highlights the importance of considering epigenetic factors in understanding complex genetic disorders.
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