PRDM8: Biomarker for aplastic anemia and dyskeratosis congenita

Aplastic anemia

Aplastic anemia (AA) is a progressive bone marrow failure syndrome. 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 an 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

Dyskeratosis congenita (DKC) is a rare disease that 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. DKC is often associated with mutations in genes required for proper telomere maintenance, but diagnosis remains a challenge. We have recently demonstrated that DKC is often associated with aberrant DNA-methylation in PRDM8.

 DNA methylation level at one selected CpG within the PRDM8 gene in AA and DKC patients. 
DNA methylation in PRDM8. 


Area of application

Cygenia provides a new assay for the 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. So far, this service is for research use only.


Relevant literature:

Weidner CI, et al. DNA methylation in PRDM8 is indicative for dyskeratosis congenitaOncotarget, 2016.

Cypris O. et al. PRDM8 reveals aberrant DNA methylation in aging syndromes and is relevant for hematopoietic and neuronal differentiation. Clinical Epigenetics, 2020.

Patent application: DE 10 2015 121 969.7 (PRDM8)