Life Extension Final Clerance Sale

Discovery of a gene that controls 3 different diseases


NewsRx.com

05-10-13

By a News Reporter-Staff News Editor at Gene Therapy Weekly -- An international research consortium led by the Universitat Autonoma 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 (see also Rare Diseases).

The researchers, using next-generation massive ultrasequencing techniques, have sequenced the over 20,000 genes of a Fanconi anaemia 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 anaemia, on the other hand, is characterised by progressive anaemia, congenital malformations and a high risk of developing leukaemia 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 Surralles.

These findings, published 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.

Keywords for this news article include: Genetics, Oncology, Rare Diseases, Cancer Gene Therapy, Universitat Autonoma de Barcelona.

Our reports deliver fact-based news of research and discoveries from around the world. Copyright 2013, NewsRx LLC

To see more of the NewsRx.com, or to subscribe, go to http://www.newsrx.com .

2007 NewsRx.com. All Rights Reserved.Copyright 2013, Gene Therapy Weekly via NewsRx.com

Articles featured in Life Extension Daily News are derived from a variety of news sources and are provided as a service by Life Extension. These articles, while of potential interest to readers of Life Extension Daily News, do not necessarily represent the opinions nor constitute the advice of Life Extension.

  • Consumer Alerts | Learn about issues that could impact your right to obtain the nutritional supplements and/or hormones such as DHEA that you depend on.

  • LEF Forum | Life Extension hosts Forums on Supplements, Hormones, Lifestyles, Disorders/Diseases, and other areas of interest to life extensionists worldwide.

  • What's Hot | News flashes are posted here frequently to keep you up-to-date with the latest advances in health care, nutritional supplements, and longevity.

  • Legislative Action Center | Take action on important current issues featured in Life Extension magazine and our web site.

  • Events | Find out about upcoming life extension related conferences, seminars, and meetings, or view reports on past events.

  • Life Extension Update | Our periodical newsletter reports new findings in longevity, preventive medicine and disease as soon as they are discovered!

  • Multimedia Center | An information-packed collection of video and audio featuring various health topics of importance to you.

Get Your FREE Nutritional Supplement Guide
Related Forum Topics