Journal: Scientific Reports
Article Title: Mild catalytic defects of tert rs61748181 polymorphism affect the clinical presentation of chronic obstructive pulmonary disease
doi: 10.1038/s41598-021-83686-z
Figure Lengend Snippet: The impact of genetic defects in telomere maintenance on lung function deterioration. Telomere Biology Diseases (TBD, right panel) are caused by rare genetic mutations that severely compromise the synthesis and/or the structural protection of the telomeres. TBD patients display extremely short telomeres at a young age, precipitating the onset of clinical symptoms. In contrast, carriers of common TERT genetic variants (SNPs) (middle panel) are not expected to display pathogenesis associated with short telomeres in the absence of additional factors (environmental, pathological or in combination with other genetic determinants) that accelerate telomere attritions. Even so, these carriers are still genetically predetermined to a decreased capacity to maintain their telomeres, when compared with noncarriers (left panel). These deficiencies, while silent phenotypically within the general population, could be unmasked by the massive increase in regenerative demand associated with tissue degenerative conditions, as seen in the case of COPD. Our work provides a proof-of-principle for novel epidemiological and clinical evaluations of the common SNPs in telomere biology genes on their effects as genetic modifiers rather than drivers of chronic tissue-degenerative disorders.
Article Snippet: A sheep anti-human TERT polyclonal antibody (0.5 μg/ml, Abbexa, Cambridge, UK) and a Donkey anti-sheep horseradish peroxidase-conjugated antibody (0.2 μg/ml, Jackson ImmunoResearch, West Grove, PA, USA) were sequentially applied before detection by ECL (PerkinElmer, Waltham, MA, USA) on Kodak X-ray films.
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