AsianScientist (Dec. 3, 2014) – Scientists in Japan have successfully established induced pluripotent stem cells (iPS) from the fibroblasts of Werner Syndrome patients. Their results, published in PLoS One, could spur the development of better treatments for the genetic disease.
Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer. This syndrome occurs frequently in Japan, affecting between 1 in 20,000 to 1 in 40,000 people. As current therapeutic methods for this disease are very limited, it is hoped that iPS cells can be used for the development of innovative therapies.
A team including first author Associate Professor Akira Shimamoto from Hiroshima University analyzed patient-derived iPS cells and found telomeric abnormalities in the fibroblasts of these patients. These abnormalities were caused by the lack of WRN helicase encoded by the gene responsible for Werner syndrome, which were reproduced in the iPS cells generated from the patients.
Furthermore, Dr. Shimamoto found that the expression levels of aging-related genes—including those encoding cell cycle inhibitors and inflammatory cytokines—were the same in iPS cells from patients as those in normal iPS cells, even though the expression levels of these genes in the fibroblasts of the patients were higher than those in normal fibroblasts.
Dr. Shimamoto said, “So far, the use of patient cells was restricted to blood or dermal cells in basic research. The iPS cells that we have established will provide an opportunity for drug discovery for the treatment of Werner syndrome and also help with better understanding of the mechanism of this disease.”
“In addition, the mutated WRN gene in patient-derived iPS cells can be corrected by genome editing. This advantage will be help in the development of new gene and cell therapies for Werner syndrome.”