Telomere biology disorders

Telomere biology disorders (TBD) are a heterogeneous group of diseases arising from germline mutations affecting genes involved in telomere maintenance. Telomeres are DNA-protein structures at chromosome ends that maintain chromosome stability; their length affects cell replicative potential and senescence. A constellation of bone marrow failure, pulmonary fibrosis, liver cirrhosis and premature greying is suggestive, however incomplete penetrance results in highly variable manifestations, with idiopathic pulmonary fibrosis as the most common presentation. Currently, the true extent of TBD burden is unknown as there is no established diagnostic criteria and the disorder often is unrecognised and underdiagnosed. There is no gold standard for measuring telomere length and not all TBD-related mutations have been identified. There is no specific cure and the only treatment is organ transplantation, which has poor outcomes. This review summarises the current literature and discusses gaps in understanding and areas of need in managing TBD.

Automated summary

Telomere biology disorders are a group of diseases caused by germline mutations affecting genes responsible for telomere maintenance. These disorders present with a range of symptoms such as bone marrow failure, pulmonary fibrosis, and are often difficult to diagnose due to variable clinical manifestations. There is currently no standardized diagnostic criteria, limited treatment options, and poor prognosis associated with organ transplantation.