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Patients with Fanconi anemia have genomic instability and a deficiency in DNA repair
And international study attended by the Instituto de Investigación del Hospital de la Santa Creu i Sant Pau – IIB Sant Pau and the Autonomous University of Barcelona (UAB) identified the mechanism for which the patients with Fanconi anemia develop Head and neck cancers and they were able to verify that it is the same mechanism that explains the reason smoking and drinking increase the risk of this type of cancer in the general population. The results, published by the journal ‘Nature’, show that the shortage in cells’ natural process to repair damage which produce chemicals that damage DNA, called aldehydes, is responsible for the risk of presenting squamous cell carcinoma of the head and neck.
These results help to understand the mechanisms involved in origin of this type of tumor and allow the search New strategies aimed at trying to counteract this risk, not only in patients with Fanconi anemia, but also in general population, where even the combination of tobacco and alcohol greatly increases the risk of suffering from these tumors.
Human cells are exposed to various environmental attacks they can cause DNA damage, so they need constant repair. In every cell, at any given moment, molecular processes are taking place seal the cracks in the double helix o correct the genetic code to keep the body functioning properly.
What is Fanconi anemia
People born with Fanconi anemia (a strange disease characterized by genomic instability and DNA repair deficiency) one of those fix systems doesn’t work for them, which makes its cells unable to eliminate the lesions created by various environmental factors.
These people can suffer numerous medical problems throughout his life, such as bone marrow failure, congenital malformations and also a very high risk of developing head and neck cancers. It is a type of cancer that is usually diagnosed in 60 or 70 years of life, and in people with Fanconi anemia it can appear around 20 or 30 years and with an incidence that can be 700 times higher than that of the general population.
In this study, the researchers analyzed the genetic signatures of tumors from fifty patients with Fanconi anemia and compared them with data from hundreds of sporadic tumors.
Related news
One of the most important aspects that emerges from the results of this study is that drink and smoke, which subject the body to aldehydes, promotes the appearance of tumors by mechanisms similar to those involved in Fanconi’s anemia. When the body is exposed to more damage than the cells can repair, a process similar to that experienced by people with Fanconi anemia occurs, and that’s when these tumors appear.
With these results, it is proposed new challenges for the future how to find drugs that affect the repair mechanism of the damage caused by aldehydes, or manipulate the process so that this harmful substance does not accumulate in the body to try to delay or prevent the appearance of these tumors. I’m already working on it two clinical trials in that direction.
