Aplastic anemia results in progressive bone marrow failure due to the loss of mature blood cells. The underlying cause is often unknown - chemicals, radiation, infection, autoimmune dysfunction, or heredity can be the trigger of this disease. The disease is often associated with dramatically shortened telomeres and it has recently been shown to be also associated with premature aging on epigenetic level. Aplastic anemia is still a diagnosis of exclusion since specific tests are yet elusive. It has been demonstrated that patients with aplastic anemia have often accelerated epigenetic age and aberrant DNA-methylation at the gene PRDM8.
Dyskeratosis congenita (DKC) is a rare disease that is often associated with mutations in genes required for proper telomere maintenance. Clinically, DKC usually reflects a triad of oral leukoplakia, nail dystrophy, and skin hyperpigmentation. Other typical manifestations include symptoms of bone marrow failure, and fibrosis of lung and liver. Notably, DKC is often associated with aberrant DNA-methylation in PRDM8.
Area of application
Cygenia provides an Epigenetic-Aging-Signature which can support diagnosis of aplastic anemia and DKC: overestimation of age-predictions is indicative for exhaustion of the stem cell pool. Furthermore, Cygenia provides a new assay for diagnosis of both diseases, which is based on the DNA-methylation level in the gene PRDM8. These assays are developed for physicians and scientists. If the doctor in charge wants to consider these new methods to support diagnosis of individual patients, this approach may be valuable – however, it has to be noted that the validity of this new method still requires further research.