First Epigenome in Europe Completed
The first European comparative study between the epigenetic marks of a healthy person and a patient with a genetic disease has been completed
The study was led by Manel Esteller, director of the Epigenetics and Cancer Biology Program at the Bellvitge Biomedical Research Institute (IDIBELL), professor of genetics at the University of Barcelona and ICREA researcher.
The finding is published in the latest issue of the scientific journal Epigenetics.
The genome for all cells in the human body is the same regardless of cell function. Therefore, mapping only the genome cannot fully explain the activity of tissues and organs or their disorders in complex diseases like cancer. It takes a further search for an explanation.
Part of this explanation is provided by epigenetics, a field of biology that studies the heredity activity of DNA that does not involve changes in DNA sequence. If genetics is the alphabet, epigenetics is the punctuation and spelling that guides the activity of specific cells.
Methylation epigenetics refers to chemical changes to genetic material, and to the proteins that regulate those changes. The best-known epigenetic mark is methylation, the addition of a methyl chemical group (-CH3) in our DNA.
The epigenome consists of all the genes and epigenetic markers in a living being. The author mapped two epigenomes for all patterns of DNA methylation found in their white blood cells. The patients were two young females: one healthy, and one suffering from a rare genetic disease called Immunodeficiency Centromere instability and Facial anomalies syndrome (ICF).
ICF is a disease caused by a mutation to a gene through the addition of a methyl group. The analysis performed by the team of researchers revealed that the patient has an epigenomic defect causing her chromosomes to be very fragile. The study also showed that she has an error in epigenetic control of many genes related to her response to infection, thereby causing her severe immune deficiency.
Study coordinator, Manel Esteller, believes that due to this study, “We now know what happens in this type of rare diseases and we can start thinking about strategies for new treatments based on this knowledge.”
If genetics is the whole alphabet, then epigenetics is the punctuation and spelling of individual words that guide the activity of our cells.
Dr. Esteller is an international leader in the field of epigenetics. His work has been crucial to show that all human tumours have in common a specific chemical alteration: the hypermethylation of tumor suppressor genes. He has been the director of the Epigenetics and Cancer Biology Program at IDIBELL since 2008.
Heyn H*, Vidal E, Sayols S*, Sanchez-Mut JV*, Moran S*, Medina I, Sandoval J*, Simó-Riudalbas L*, Szczesna K*, Huertas D*, Gatto S, Matarazzo MR, Dopazo J, Esteller M*. Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient. Epigenetics, June 1, 2012.
*Investigadors de l’IDIBELL
Original article: http://www.idibell.cat/modul/news/en/370/first-epigenome-in-europe-completed