Enhancers in disease: molecular basis and emerging treatment strategies

Annique Claringbould; Judith B. Zaugg

doi:10.1016/j.molmed.2021.07.012

August 20, 2021Trends in Molecular MedicineOpen Access

Enhancers in disease: molecular basis and emerging treatment strategies

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Key Points

Summarize the molecular mechanisms underlying enhancer disruption across human pathologies and evaluate emerging therapeutic strategies targeting noncoding regulatory regions.
Reviewed mechanistic and clinical evidence linking structural variations, point mutations, and epigenetic alterations to enhancer dysfunction in human disease.
Assessed functional genomics and chromosomal architecture models, including topologically associating domain dynamics and super-enhancer assemblies.
Surveyed targeted therapeutic approaches, specifically bromodomain and extra-terminal (BET) inhibitors and CRISPR-based regulatory tools.
Enhancer dysfunction drives disease pathogenesis through chromosomal rearrangements (enhancer hijacking), disruption of transcription factor binding sites, and boundary loss in topologically associating domains.
Disease-associated variants identified by genome-wide association studies and pathogenic epigenetic alterations are predominantly enriched within noncoding enhancer and super-enhancer regions.
Novel interventions, such as BET bromodomain inhibitors and CRISPR-mediated epigenome editing, demonstrate functional capability to selectively repress aberrant, enhancer-driven oncogene and target gene expression.

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Implication

Narrative review reveals how enhancer disruptions drive cancers and congenital disorders, highlighting emerging BET inhibitors and CRISPR gene editing therapies.

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Claringbould et al. (2021) studied this question.

synapsesocial.com/papers/69dfed9dd5404a0bea593666 https://doi.org/10.1016/j.molmed.2021.07.012

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Enhancers in disease: molecular basis and emerging treatment strategies

Key Points

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Discussion

Cite This Study

Enhancers in disease: molecular basis and emerging treatment strategies

Key Points

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Implication

Discussion

Cite This Study

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