Telomere Biology Disorders explained

Telomere Biology Disorders (TBDs) are also known as Short Telomere Syndromes or telomeropathies. They are characterized by genetic deficits affecting telomere maintenance and by the presence of very short telomeres. Research in this field helps improve diagnosis and treatment for people with TBDs.

This is part of a short series of videos where we explore telomeres, telomere length and telomerase, as well as the impacts they have on our health.

Chapters:
00:00 What are telomeres?
00:37 What are Telomere Biology Disorders?
01:13 What is disease anticipation?
01:26 How does telomerase maintain telomere length?
01:57 Do telomeres shorten as we age?
02:18 Why do Telomere Biology Disorders cause short telomeres?
02:56 What genes cause Telomere Biology Disorders?

Watch the next video explaining how telomere length impacts cancer risk:    • How telomere length impacts cancer risk  

Missed the previous video on links between telomerase and aging?    • The links between telomerase and aging  

RepeatDx is a leading clinical laboratory for telomere length testing. You can find out more on our website: https://repeatdx.com/

Follow us on Twitter:   / repeatdx  

References
1. Calado, R. T. & Young, N. S. Telomere maintenance and human bone marrow failure. Blood 111, 4446-4455, doi:blood-2007-08-019729 [pii] 10.1182/blood-2007-08-019729 (2008).
2. Armanios, M. Y. et al. Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med 356, 1317-1326 (2007).
3. Niewisch, M. R. & Savage, S. A. An update on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol 12, 1037-1052, doi:10.1080/17474086.2019.1662720 (2019).
4. Wang, Q. et al. Shorter leukocyte telomere length is associated with adverse COVID-19 outcomes: A cohort study in UK Biobank. EBioMedicine 70, 103485, doi:10.1016/j.ebiom.2021.103485 (2021).
5. Grill, S. & Nandakumar, J. Molecular mechanisms of telomere biology disorders. J Biol Chem 296, 100064, doi:10.1074/jbc.REV120.014017 (2021).
6. Savage SA. Beginning at the ends: telomeres and human disease [version 1; peer review: 4 approved]. F1000Research 2018, 7(F1000 Faculty Rev):524 (https://doi.org/10.12688/f1000researc...)
7. Savage SA, Bertuch AA. The genetics and clinical manifestations of telomere biology disorders. Genet Med. 2010;12(12):753-764. doi:10.1097/GIM.0b013e3181f415b5