Epigenetics
Connecting genomic and environmental factors that affect health
What is Epigenetics?
Epigenetics studies heritable and reversible changes that occur in gene function without modifying the DNA sequence.
Physical and mental health depends not only on the modifications in the DNA code inherited from our ancestors (genetics), but also on the dynamic interaction between our genes and the environment, even if the genetic code is not altered (epigenetics).
Epigenetic changes are reversible and depend on the quality of the interaction between the individual and his or her environment, and therefore we can act on them to improve our health.
Influence of Epigenetics:
Twin studies
An illustrative example of the influence of epigenetics is seen in studies of monozygotic identical twins. Although they share an identical DNA sequence, both develop a very different predisposition to certain types of diseases.
This is largely explained by the fact that both have been exposed to very different stimuli (diet, social life, hobbies, vices, stress, etc.), and their genomes, although identical, are expressed differently.
How important is epigenetics in medicine?
Epigenetics plays a fundamental role in the development of prevalent diseases (cardiovascular, cancer, and brain diseases). Thus, for example, mechanisms such as memory and learning, cognitive impairment associated with old age or behavioural disorders are largely epigenetically regulated.
Epigenetic biomarkers
EuroEspes is developing a series of epigenetic biomarkers that allow for both the detection of diseases and the monitoring of the response to the different treatments provided to the patient:
Global DNA methylation
In processes that involve tumours and neurodegeneration, there are lower levels of global DNA methylation. Therefore, this biomarker makes it possible to detect whether these global methylation levels correspond to those of a healthy person, or whether they present abnormal levels compatible with tumour and neurodegenerative processes. Furthermore, treatment with AtreMorine, an epinutraceutical that increases Dopamine levels, increases global methylation levels in Parkinson's patients.
Pyrosequencing
The pyrosequencing technique allows for the measurement of methylation levels in certain regions of some genes, enabling the diagnosis of certain pathologies (Parkinson's, Alzheimer's, colorectal cancer, etc.). For example, Septin 9 methylation is altered in colorectal cancer. The study of Septin 9 methylation levels is a biomarker for screening and early diagnosis of this type of cancer (approved by the FDA and the EU).
Gene expression
Changes in methylation levels often lead to changes in gene expression. Thus, the study of the expression levels of important genes in certain pathologies is also a new biomarker.
miRNAs
The expression levels of certain miRNAs are associated with different pathologies. For example, an epigenetic signature of 12 miRNAs is a biomarker for the early diagnosis of thyroid cancer and another signature of 8 miRNAs is used for the diagnosis of lung cancer.
PharmacoEpigenetics
Individual differences in drug response and metabolism are explained by both the genetics and epigenetics of individuals.
For example, smoking has been reported to affect the methylation of the CYP1A1 gene, which is involved in drug metabolism. In addition, the methylation of different genes in tumour processes affects the response to different chemotherapeutic agents. For example, MGMT methylation levels are related to a glioma patient’s response to chemotherapy.
In this way, the combination of genetic and epigenetic studies is a fundamental pillar of personalised medicine and allows better treatment of patients, avoiding ineffective or even toxic drugs.
Among the R&D projects of the EuroEspes Department of Medical Epigenetics is the study of the epigenetic changes that occur in the genes involved in drug metabolism and their association with the response to these treatments .
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