[Epigenome and human disease]

Area of Science:

• Molecular Biology
• Genetics
• Epigenetics

Context:

• Epigenetic modifications, including DNA methylation and histone modifications, regulate gene expression and are stably inherited through somatic cells.
• The epigenome, a genome-wide compilation of these marks, undergoes dynamic alterations during development, differentiation, and reprogramming.
• Epigenomic changes are increasingly recognized for their role in various biological processes and disease states.

Purpose:

• To explore the fundamental mechanisms of epigenetic modifications and their genome-wide compilation (epigenome).
• To investigate the causal involvement of epigenomic changes in the development and progression of cancer.
• To highlight the presence and potential impact of epigenomic alterations in acquired neurological, metabolic, and immunological disorders.

Summary:

• Epigenetic modifications stably mark genes for activation or silencing during cell division.
• The epigenome, encompassing these modifications, dynamically changes throughout life and is crucial for cellular identity.
• Aberrant epigenomic changes, particularly DNA methylation, are implicated in cancer by silencing tumor suppressors and promoting genomic instability.
• These changes can affect tissue function even without clonal lesions and are observed in acquired neurological, metabolic, and immunological diseases.

Impact:

• Epigenomic alterations are causally linked to cancer development, influencing tumor-suppressor gene silencing and genomic instability.
• The accumulation of aberrant DNA methylation can impact tissue function, even in the absence of overt cellular mutations.
• Emerging evidence links epigenomic changes to acquired neurological, metabolic, and immunological disorders, underscoring the need for extensive research in these areas.