Epigenetic signatures in overgrowth syndromes: Translational opportunities.
Am J Med Genet C Semin Med Genet
; 181(4): 491-501, 2019 12.
Article
in En
| MEDLINE
| ID: mdl-31828978
ABSTRACT
In recent years, numerous overgrowth syndromes have been found to be caused by pathogenic DNA sequence variants in "epigenes," genes that encode proteins that function in epigenetic regulation. Epigenetic marks, including DNA methylation (DNAm), histone modifications and chromatin conformation, have emerged as a vital genome-wide regulatory mechanism that modulate the transcriptome temporally and spatially to drive normal developmental and cellular processes. Evidence suggests that epigenetic marks are layered and engage in crosstalk, in that disruptions of any one component of the epigenetic machinery impact the others. This interdependence of epigenetic marks underpins the recent identification of gene-specific DNAm signatures for a variety of disorders caused by pathogenic variants in epigenes. Here, we discuss the power of DNAm signatures with respect to furthering our understanding of disease pathophysiology, enhancing the efficacy of molecular diagnostics and identifying new targets for therapeutics of overgrowth syndromes. These findings highlight the promise of the field of epigenomics to provide unprecedented insights into disease mechanisms generating a host of opportunities to advance precision medicine.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Epigenesis, Genetic
/
Translational Research, Biomedical
/
Growth Disorders
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
Language:
En
Journal:
Am J Med Genet C Semin Med Genet
Journal subject:
GENETICA MEDICA
Year:
2019
Type:
Article