Meduni Vienna: Gynaecology in Vienna during National Socialism
Although persons with haemophilia have nowadays reached a similar life expectancy as the general population in regions of the world with access to safe and effective therapies, little is known about the biological ageing process in the people with this congenital bleeding disorder. In a study recently published in the journal "Haematologica", researchers from the MedUni Vienna have now shown that people with haemophilia have a significantly increased biological age. The results underline the importance of research into this process in rare congenital diseases.
To gather these insights, the research team analysed two key biomarkers of biological ageing in 99 people with haemophilia and 61 healthy control subjects: telomere length and the number of mitochondrial DNA copies. Telomeres are protective caps at the ends of chromosomes that shorten with each cell division. A significant shortening can be associated with age-related diseases. Mitochondria are cell structures that are responsible for energy production; reduced mitochondrial DNA may indicate impaired cell function.
The study conducted by Cihan Ay and his team (Department of Medicine I, Clinical Division of Hematology and Hemostaseology, MedUni Vienna) in collaboration with Philipp Hohensinner (Center for Biomedical Research and Translational Surgery, MedUni Vienna) revealed significant differences: "In people with haemophilia, we observed significantly reduced telomere length and a reduced number of mitochondrial DNA copies as an indication of accelerated biological ageing," says Cihan Ay, summarising the results. "We were also able to detect increased oxidative damage in the DNA of haemophilia patients, i.e. in the store of genetic information," explain first authors Marina Trappl and Rafaela Vostatek (Department of Medicine I, Clinical Division of Hematology and Hemostaseology, MedUni Vienna). This damage may be due to chronic inflammation, which can occur in people with haemophilia as a result of bleeding into the joints leading to inflammation, for example, and plays an important role in biological ageing processes.
While the life expectancy of people with haemophilia has increased significantly in recent decades due to medical advances, little was previously known about the biological aging of those affected. Biological age describes how much the body has aged at the cellular level. It is influenced by various factors, including genetic characteristics, lifestyle and chronic diseases. Biomarkers such as telomere length or mitochondrial DNA provide clues as to how quickly this process is progressing in an individual. Accelerated biological aging can be associated with an increased risk of age-related diseases such as cardiovascular problems or neurodegenerative diseases.
The current results suggest that rare blood clotting disorders such as haemophilia could also be associated with accelerated biological ageing. According to the research team, further studies are needed to investigate the underlying mechanisms of this process and to better understand the long-term health effects of biological ageing in haemophilia.