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Understanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed Lungs
Joint Authors
Grutters, Jan C.
Hoffman, Thijs W.
van Batenburg, Aernoud A.
Klay, Dymph
van der Vis, Joanne J.
van Moorsel, Coline H. M.
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-13, 13 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-10-11
Country of Publication
Egypt
No. of Pages
13
Main Subjects
Abstract EN
Pulmonary fibrosis is the main cause of severe morbidity and mortality in idiopathic interstitial pneumonias (IIP).
In the past years, there has been major progress in the discovery of genetic factors that contribute to disease.
Genes with highly penetrant mutations or strongly predisposing common risk alleles have been identified in familial and sporadic IIP.
This review summarizes genes harbouring causative rare mutations and replicated common predisposing alleles.
To date, rare mutations in nine different genes and five risk alleles fulfil this criterion.
Mutated genes represent three genes involved in surfactant homeostasis and six genes involved in telomere maintenance.
We summarize gene function, gene expressing cells, and pathological consequences of genetic alterations associated with disease.
Consequences of the genetic alteration include dysfunctional surfactant processing, ER stress, immune dysregulation, and maintenance of telomere length.
Biological evidence shows that these processes point towards a central role for alveolar epithelial type II cell dysfunction.
However, tabulation also shows that function and consequence of most common risk alleles are not known.
Most importantly, the predisposition of the MUC5B risk allele to disease is not understood.
We propose a mechanism whereby MUC5B decreases surface tension lowering capacity of alveolar surfactant at areas with maximal mechanical stress.
American Psychological Association (APA)
van Moorsel, Coline H. M.& Hoffman, Thijs W.& van Batenburg, Aernoud A.& Klay, Dymph& van der Vis, Joanne J.& Grutters, Jan C.. 2015. Understanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed Lungs. BioMed Research International،Vol. 2015, no. 2015, pp.1-13.
https://search.emarefa.net/detail/BIM-1054970
Modern Language Association (MLA)
van Moorsel, Coline H. M.…[et al.]. Understanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed Lungs. BioMed Research International No. 2015 (2015), pp.1-13.
https://search.emarefa.net/detail/BIM-1054970
American Medical Association (AMA)
van Moorsel, Coline H. M.& Hoffman, Thijs W.& van Batenburg, Aernoud A.& Klay, Dymph& van der Vis, Joanne J.& Grutters, Jan C.. Understanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed Lungs. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-13.
https://search.emarefa.net/detail/BIM-1054970
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1054970