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What is epigenetics?

Epigenetics is the study of modifications in the expression of genes without an alteration of the DNA sequence.


DNA methylation

This process is one of the most studied epigenetic mechanisms and is essential for the correct development of organisms and the gene expression control.

Histone post-translational modifications

Histone post-translational modifications (PTMs) are involved in chromatin compaction depending on the histone code. In EpiDisease we are experts in analyzing histone PTMs by mass spectrometry and immunological techniques.


miRNAs are considered promising biomarkers because they control the gene expression and relevant transcriptional programs. We can identify potential biomarkers by using smallRNA-seq technology.

1. DNA methylation

DNA methylation consists of the introduction of a group methyl at the 5′ position of cytosine.

The alteration in DNA methylation is associated with genomic instability and affects the correct control of gene expression, leading to the development of various diseases (e.g., cancer, neurological disorders, metabolic syndrome, etc). DNA methylation occurs mainly at CpG sites. DNA methylation is catalyzed by DNA methyltransferases (DNMTs), which introduce the methyl group from the molecule of S-adenosylmethionine.

In EpiDisease we are experts in analyzing DNA methylation and the identification of signatures based on DNA methylation related to different human diseases.

2. Compaction of DNA

Histones are a family of proteins involved in the compaction of DNA into structural units called nucleosomes.

Each nucleosome is made up of DNA wrapped around a histone octamer.

Each octamer of histones is made up of 2 units of each histone, H2A, H2B, H3, and H4. In turn, the nucleosome chain wraps itself forming a 30 nm spiral, called a solenoid, where histone H1 binds to the connecting region of DNA between different nucleosomes to maintain chromatin structure.

Histones can be chemically modified by different enzymes. The most studied post-translational modifications (PTMs) are acetylation, methylation, phosphorylation, although there are many others. These PTMs set the basis of the “Histone code” in which specific PTMs can change the expression pattern of some genes by modifying the structure of chromatin, activating or silencing these genes.

It is postulated that alterations in the patterns of histone PTMs deregulate chromatin compaction, which ultimately leads to oncogenic transformation and development of cancer. In fact, aberrant patterns of PTM have been found histones in a large number of tumors. Moreover, specific PTMs of the histone code has been also related with neurodevelopmental and neurodegenerative processes.

In EpiDisease we are experts analyzing histone PTMs by mass spectrometry and immunological techniques in different types of biological samples.

3. microRNAs

The discovery of microRNAs (miRNAs) has revolutionized medical science because of its potential applications as biomarkers and also therapeutic agents.

MiRNAs are small non-coding RNAs of 19-23 nucleotides that can repress gene expression. It is estimated that up to 30% of mammalian genes are regulated by miRNAs. Therefore, specific differential microRNAs expression profiles have been identified in various diseases.

In recent years, the involvement of miRNAs has been described in the development of many types of cancer, neurodegenerative diseases, metabolic diseases, aging and fragility.

The high stability of miRNAs in serum, plasma, urine, saliva and other biological fluids make these molecules suitable for use as biomarkers in a clinical laboratory. In EpiDisease, we can identify potential biomarkers by using smallRNA-seq technology and specialized bioinformatic analysis.