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Discovery of a gene that controls three different diseases

Date:
April 25, 2013
Source:
Universitat Autonoma de Barcelona
Summary:
Scientists have identified a single gene, ERCC4, that can be involved in three human diseases depending on which type of mutation it presents: Fanconi anaemia, xeroderma pigmentosum, or a type of progeria. The new findings add to existing knowledge of two DNA repair activities that are important in maintaining the stability of our genes and preventing cancer in the general population.

An international research consortium led by the Universitat Autònoma 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, using next-generation massive ultrasequencing techniques, have sequenced the over 20,000 genes of a Fanconi anemia patient's genome. By adopting this strategy they have succeeded in identifying pathogenic mutations responsible for this disease in the ERCC4 gene, which had already been linked to two other rare diseases: xeroderma pigmentosum and a type of progeria. The latter are characterised by heightened sensitivity to sunlight, susceptibility to skin cancer and, in the case of progeria, premature aging. Fanconi anemia, on the other hand, is characterised by progressive anemia, congenital malformations and a high risk of developing leukemia and mouth tumours. The ERCC4 gene can therefore be responsible for three different diseases.

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 Surrallés.

These findings, published today in the American Journal of Human Genetics, as well as improving the diagnosis and genetic characterisation 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.


Story Source:

The above story is based on materials provided by Universitat Autonoma de Barcelona. Note: Materials may be edited for content and length.


Journal Reference:

  1. massimo Bogliolo, Beatrice Schuster, Chantal Stoepker, Burak Derkunt, Yan Su, Anja Raams, Juan P. Trujillo, Jordi Minguillón, María J. Ramírez, Roser Pujol, José A. Casado, Rocío Baños, Paula Rio, Kerstin Knies, Sheila Zúñiga, Javier Benítez, Juan A. Bueren, Nicolaas G.j. Jaspers, Orlando D. Schärer, Johan P. De Winter, Detlev Schindler and Jordi Surrallés. Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia. American Journal of Human Genetics, 2013 DOI: 10.1016/j.ajhg.2013.04.002

Cite This Page:

Universitat Autonoma de Barcelona. "Discovery of a gene that controls three different diseases." ScienceDaily. ScienceDaily, 25 April 2013. <www.sciencedaily.com/releases/2013/04/130425132645.htm>.
Universitat Autonoma de Barcelona. (2013, April 25). Discovery of a gene that controls three different diseases. ScienceDaily. Retrieved July 25, 2014 from www.sciencedaily.com/releases/2013/04/130425132645.htm
Universitat Autonoma de Barcelona. "Discovery of a gene that controls three different diseases." ScienceDaily. www.sciencedaily.com/releases/2013/04/130425132645.htm (accessed July 25, 2014).

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