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An epigenetic mechanism is involved in development of autoinflammatory diseases

Observed epigenetic changes open up possibilities for the development of novel biomarkers with clinical uses

Date:
July 8, 2016
Source:
IDIBELL-Bellvitge Biomedical Research Institute
Summary:
Scientists have identified an epigenetic mechanism involved in the development of autoinflammatory diseases. The observed epigenetic changes open up possibilities for the development of novel biomarkers with clinical uses.
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Researchers from the Chromatin and Disease group of the Bellvitge Biomedical Research Institute (IDIBELL), led by Dr. Esteban Ballestar, have identified for the first time epigenetic alterations in autoinflammatory diseases, particularly in cryopyrin-associated periodic syndromes (CAPS). The study has been published this week in the Journal of Allergy and Clinical Immunology.

Systemic autoinflammatory diseases comprise a set of rare diseases characterized by the presence of recurrent acute inflammatory episodes that result from the deregulation of control of the inflammatory process. These diseases occur as a result of mutations in different genes related to innate immune response and inflammation.

The three diseases that the term CAPS includes are Familial Cold Autoinflamatory Syndrome or FCAS, Muckle-Wells syndrome and Neonatal-Onset Multisystem Inflammatory Disease (NOMID) or Chronic Infantile Neurological Cutaneous Articular Syndrome (CINCA). All CAPS patients have mutations in the encoding gene cryopyrin, a key protein in the process of inflammation. Although the presence of mutations is common, not all patients present with the same clinical features or respond equally to drug treatment.

The study, which was mainly carried out by Drs Roser Vento-Tormo, Damiana Álvarez-Errico and Antonio García-Gómez, has not only shown that CAPS patients have alterations in the DNA methylation-dependent control of inflammation genes in their monocytes, but also that the immunological treatments received by these patients are able to restore methylation levels to those observed in healthy individuals.

Since all CAPS patients neither have the same clinical features nor respond equally to treatment with immune drugs, the observed changes in the DNA methylation open up possibilities for the development of novel biomarkers with clinical uses, including a better characterization of patients as well as a follow-up in their response to treatments.


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Materials provided by IDIBELL-Bellvitge Biomedical Research Institute. Note: Content may be edited for style and length.


Journal Reference:

  1. Roser Vento-Tormo, Damiana Álvarez-Errico, Antonio Garcia-Gomez, José Hernández-Rodríguez, Segundo Buján, Maria Basagaña, Maria Méndez, Jordi Yagüe, Manel Juan, Juan I. Aróstegui, Esteban Ballestar. DNA demethylation of inflammasome-associated genes is enhanced in patients with cryopyrin-associated periodic syndromes. Journal of Allergy and Clinical Immunology, 2016; DOI: 10.1016/j.jaci.2016.05.016

Cite This Page:

IDIBELL-Bellvitge Biomedical Research Institute. "An epigenetic mechanism is involved in development of autoinflammatory diseases." ScienceDaily. ScienceDaily, 8 July 2016. <www.sciencedaily.com/releases/2016/07/160708123627.htm>.
IDIBELL-Bellvitge Biomedical Research Institute. (2016, July 8). An epigenetic mechanism is involved in development of autoinflammatory diseases. ScienceDaily. Retrieved March 28, 2024 from www.sciencedaily.com/releases/2016/07/160708123627.htm
IDIBELL-Bellvitge Biomedical Research Institute. "An epigenetic mechanism is involved in development of autoinflammatory diseases." ScienceDaily. www.sciencedaily.com/releases/2016/07/160708123627.htm (accessed March 28, 2024).

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