Researchers complete the first epigenome in Europe

May 30, 2012

A study 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, has completed the first epigenome in Europe. The finding is published in the latest issue of the international scientific journal Epigenetics.

The genome of all cells in the human body is the same for all of them, regardless their aspect and functions. Therefore, genome cannot fully explain the activity of tissues and organs and their disorders in complex diseases like cancer. It takes a further explanation. Part of this explanation is provided by epigenetics, a field of biology that studies the activity of DNA that does not involve changes in its sequence. That is, if genetics is the alphabet, epigenetics is the spelling that guides the activity of our cells.

Methylation

Epigenetics refers to in our and proteins that regulate it. The best-known epigenetic mark is the methylation, the addition of a methyl chemical group (-CH3) in our DNA. The epigenome consists of all the epigenetic marks of a living being.

The authors of the study have completed the for all brands of methylation of DNA from of two girls: a healthy one and a patient suffering from a called Immunodeficiency, Centromere instability and Facial anomalies syndrome (ICF). This disease is caused by a mutation in a gene that causes the addition of a methyl chemical group in its DNA.

The analysis performed by the researchers reveals that the patient has an epigenomic defect that causes fragility of chromosomes, which thus can easily be broken. In addition, the study shows that the patient has a wrong epigenetic control of many genes related to the response against infection, which causes a severe .

The study coordinator, Manel Esteller, emphasizes 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."

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 tumour suppressor genes. Since 2008 is the director of the Epigenetics and Cancer Biology Program at IDIBELL.

Explore further: Researchers characterize epigenetic fingerprint of 1,628 people

More information: 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.

Related Stories

Researchers characterize epigenetic fingerprint of 1,628 people

June 2, 2011
Until a decade, it was believed that differences between people were due solely to the existence of genetic changes, which are alterations in the sequence of our genes. The discoveries made during these last ten years show ...

Study gives clue as to how notes are played on the genetic piano

May 12, 2011
Japanese and U.S. scientists in the young field of epigenetics Thursday reported a rationale as to how specific genes are silenced and others are not. Because this effect can be reversed, it may be possible to devise therapies ...

The loss of a protein makes 'jump' the tumor to the lymph node

March 6, 2012
Metastasis is responsible for 90% of deaths in patients with cancer. Understanding the mechanisms responsible for this process is one of the top goals of cancer research. The metastatic process involves a series of steps ...

Why cancer cells change their appearance?

September 2, 2011
Like snakes, tumour cells shed their skin. Cancer is not a static disease but during its development the disease accumulates changes to evade natural defences adapting to new environmental circumstances, protecting against ...

Recommended for you

New gene editing approach for alpha-1 antitrypsin deficiency shows promise

October 20, 2017
A new study by scientists at UMass Medical School shows that using a technique called "nuclease-free" gene editing to correct cells with the mutation that causes a rare liver disease leads to repopulation of the diseased ...

Maternal diet may program child for disease risk, but better nutrition later can change that

October 20, 2017
Research has shown that a mother's diet during pregnancy, particularly one that is high-fat, may program her baby for future risk of certain diseases such as diabetes. A new study from nutrition researchers at the University ...

Researchers find evidence of DNA damage in veterans with Gulf War illness

October 19, 2017
Researchers say they have found the "first direct biological evidence" of damage in veterans with Gulf War illness to DNA within cellular structures that produce energy in the body.

Researchers drill down into gene behind frontotemporal lobar degeneration

October 19, 2017
Seven years ago, Penn Medicine researchers showed that mutations in the TMEM106B gene significantly increased a person's risk of frontotemporal lobar degeneration (FTLD), the second most common cause of dementia in those ...

New clues to treat Alagille syndrome from zebrafish

October 18, 2017
A new study led by researchers at Sanford Burnham Prebys Medical Discovery Institute (SBP) identifies potential new therapeutic avenues for patients with Alagille syndrome. The discovery, published in Nature Communications, ...

Genetic variants associated with obsessive-compulsive disorder identified

October 18, 2017
(Medical Xpress)—An international team of researchers has found evidence of four genes that can be linked to obsessive-compulsive disorder (OCD). In their paper published in the journal Nature Communications, the group ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.