A Triple Threat: A New Gene That Controls Three Different Disease

An article in Science Daily describes the discovery of a new gene that controls three different diseases.  Researchers have used ultrasequencing techniques and have sequenced over 20,000 genes of a patient’s Fanconi anemia genome.  By using this method researchers have been successful at identifying ERCC4 gene mutations.  The ERCC4 gene is related to diseases such as xeroderma pigmentosum and progeria. Both have sensitivity to sunlight, and patients with those two diseases are more susceptible to skin cancer. Fanconi anemia is a progressive form of anemia, with malformation and a high risk of developing leukemia and tumors in the mouth.  The ERCC4 gene can be link to three diseases, xeroderma pigmentosum, progeria and Fanconi anemia.

Researchers found that the ERCC4 gene is involved with two DNA repair mechanisms, maintaining the stability of the genome so that the balance among the two repair systems will ultimately determine the disease the patient will obtain. By the research found on the mutation of the ERCC4 gene and knowing the genetic make up of the three diseases, will allow for new approaches of therapy. For example, a sibling’s compatible embryo through an umbilical cord transplant or gene therapy. These finding also expand our knowledge of the two DNA repair mechanisms, which can help with preventing cancer and maintaining gene stability.  The researchers indicate that this research will be import to the future studies of the ERCC4 genes possible pole in breast cancer and ovarian cancer.

http://www.genengnews.com/gen-news-highlights/triple-threat-gene-controls-three-diseases/81248285/