Video: Telomere Biology Disorders explained

Telomere Biology Disorders (TBDs) are also known as Short Telomere Syndromes or telomeropathies. This video explores what causes TBDs and how they can impact people’s health.

Telomere Biology Disorders (TBDs) are characterized by genetic deficits affecting telomere maintenance and by the presence of very short telomeres.

Symptoms of TBDs can range significantly from person-to-person.

In younger people, the most common problem is the inability to produce enough blood cells, known as bone marrow failure. A rare form of this is dyskeratosis congenita – the first described TBD. But older patients often first present with idiopathic pulmonary fibrosis (IPF) — scarring of the lungs.

TBDs can be passed down in families, with children often having shorter telomeres (for their age) and showing symptoms earlier than their parents. This is called disease anticipation.

Telomere research has come a long way, and scientists have identified a number of genes which can experience damaging mutations, or other abnormalities, causing TBDs. However, physicians and researchers still encounter people with TBDs and no known mutation.

Research in this field helps improve diagnosis and treatment for people with TBDs. Read more about telomere biology research here.

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

To learn more about how telomere length impacts cancer risk watch this video.

Watch this video on the links between telomerase and aging to learn more.

RepeatDx is a leading clinical laboratory for telomere length testing. You can find out more about telomere length testing with RepeatDx here.

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/f1000research.14068.1)

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