Source: Stanford University Medical Center
Date: May 22, 2011
Summary:
STANFORD, Calif. — A rare genetic disease called dyskeratosis congenita, caused by the rapid shortening of telomeres (protective caps on the ends of chromosomes), can be mimicked through the study of undifferentiated induced pluripotent stem cells, according to new findings from the Stanford University School of Medicine. Although dyskeratosis affects only about one in a million people, the scientists' findings could greatly facilitate research into this and other diseases caused by stem cell malfunctions, including some bone marrow failure syndromes and, perhaps, pulmonary fibrosis.
The study, which used iPS cells created from the cells of patients with dyskeratosis, explains why sufferers experience a wide variety in the types and severity of symptoms, ranging from abnormal skin pigmentation and nail growth to lung scarring, bone marrow failure and cancer. The key lies in the activity of telomerase, an enzyme critical to aging and cell renewal. The study will be published online May 22 in Nature.
