Epigenetics, by definition, refers to changes in the regulation of gene expression that do not involve changes in the DNA sequence. However, studies show that epigenetic mechanisms can indirectly influence the occurrence of mutations by impacting genetic stability and DNA repair processes.
How Can Epigenetics Contribute to Mutations?
- Changes in DNA Methylation
- DNA methylation can protect or expose certain regions of the genome to damage. Hypermethylation of tumor suppressor genes, for example, can silence them, creating an environment conducive to the emergence of mutations.
- Modifications in Chromatin Structure
- Changes in histones can modify the compaction state of chromatin, interfering with DNA replication and repair. Excessive compaction can make it difficult to correct errors, favoring the accumulation of mutations.
- Repair Gene Silencing
- Genes responsible for DNA repair can be silenced by epigenetic mechanisms, such as aberrant methylation, compromising the cellular ability to correct DNA damage.
- Environmental Stimuli and Epimutation
- Exposure to environmental factors, such as pollutants or radiation, can induce epigenetic changes that make DNA more vulnerable to damage and mutations.
- Inherited Epimutation
- Epigenetic changes that persist across cell generations can favor genetic instability, increasing the likelihood of mutations.
Scientific Examples
• Cancer: In tumors, it is common for epigenetic alterations, such as methylation of gene promoters such as TP53, to precede genetic mutations in these same regions.
• Neurodegenerative Diseases: Genetic instability associated with epigenetics is also observed in pathologies such as Alzheimer’s and Huntington’s.
Conclusion
Although epigenetics does not directly cause mutations, it plays a key role in creating conditions that can facilitate their emergence. By influencing genome stability and DNA repair mechanisms, epigenetic processes interact with genetics in complex ways, expanding our understanding of diseases such as cancer and cellular aging.
