Imperial College London
Dr Carmel Stock

DrCarmelStock

Faculty of Medicine, National Heart & Lung Institute

Honorary Research Associate
 
 
 
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Contact

 

c.stock

 
 
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Location

 

2129Sydney StreetRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Stock:2021:10.3390/jcm10071384,
author = {Stock, C and Renzoni, E},
doi = {10.3390/jcm10071384},
journal = {Journal of Clinical Medicine},
title = {Telomeres in interstitial lung diseases},
url = {http://dx.doi.org/10.3390/jcm10071384},
volume = {10},
year = {2021}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Interstitial lung diseases (ILD) encompass a group of conditions involving fibrosis and/or inflammation of the pulmonary parenchyma. Telomeres are repetitive DNA sequences at chromosome ends which protect against genome instability. At each cell division, telomeres shorten, but the telomerase complex partially counteracts progressive loss of telomeres by catalysing the synthesis of telomeric repeats. Once critical telomere shortening is reached, cell cycle arrest or apoptosis are triggered. Telomeres progressively shorten with age. A number of rare genetic mutations have been identified in genes encoding for components of the telomerase complex, including telomerase reverse transcriptase (TERT) and telomerase RNA component (TERC), in familial and, less frequently, in sporadic fibrotic ILDs. Defects in telomerase result in extremely short telomeres. More rapidly progressive disease is observed in fibrotic ILD patients with telomere gene mutations, regardless of underlying diagnosis. Associations with common single nucleotide polymorphisms in telomere related genes have also been demonstrated for various ILDs. Shorter peripheral blood telomere lengths compared to age-matched healthy individuals are found in a proportion of patients with fibrotic ILDs, and in idiopathic pulmonary fibrosis (IPF) and fibrotic hypersensitivity pneumonitis (HP) have been linked to worse survival, independently of disease severity. Greater susceptibility to immunosuppressant-induced side effects in patients with short telomeres has been described in patients with IPF and with fibrotic HP. Here, we discuss recent evidence for the involvement of telomere length and genetic variations in the development, progression, and treatment of fibrotic ILDs.
AU  - Stock,C
AU  - Renzoni,E
DO  - 10.3390/jcm10071384
PY  - 2021///
SN  - 2077-0383
TI  - Telomeres in interstitial lung diseases
T2  - Journal of Clinical Medicine
UR  - http://dx.doi.org/10.3390/jcm10071384
UR  - http://hdl.handle.net/10044/1/89062
VL  - 10
ER  -
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