April 25, 2013
Discovery Of A Gene That Controls 3 Different Diseases
The gene could also be involved in breast and ovarian cancer
An international research consortium led by the Universitat AutÃ²noma de Barcelona (UAB), the CIBERER and the University of Wurzburg (Germany) has discovered a gene that can cause three totally different diseases, depending on how it is altered.
The researchers have shown that this gene is involved in two DNA repair mechanisms by which cells maintain the stability of the genome, in such a way that the balance between these two repair systems will determine which of the three diseases the patient will contract. "This is a rather exceptional case, since there are few precedents of a single gene being involved in two independent physiological mechanisms and causing three clinically different diseases", points out UAB professor Dr Jordi SurrallÃ©s.
These findings, published today in the "American Journal of Human Genetics", as well as improving the diagnosis and genetic characterization of rare diseases, will allow new therapeutic strategies to be applied, like gene therapy or the selection of healthy, compatible embryos to cure siblings through umbilical cord transplants. The findings add to our knowledge of the two DNA repair mechanisms, which are so important for maintaining the stability of our genes and preventing cancer in the general population. In fact, the researchers point to the importance of going on to study this gene's possible role in breast cancer and ovarian cancer.
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