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α1-Antitrypsin deficiency

Greene, CM; Marciniak, SJ; Teckman, J; Ferrarotti, I; Brantly, ML; Lomas, DA; Stoller, JK; (2016) α1-Antitrypsin deficiency. Nature Reviews Disease Primers , 2 , Article 16051. 10.1038/nrdp.2016.51. Green open access

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Abstract

1-Antitrypsin deficiency (A1ATD) is an inherited disorder caused by mutations in SERPINA1, leading to liver and lung disease. It is not a rare disorder but frequently goes underdiagnosed or misdiagnosed as asthma, chronic obstructive pulmonary disease (COPD) or cryptogenic liver disease. The most frequent disease-associated mutations include the S allele and the Z allele of SERPINA1, which lead to the accumulation of misfolded α1-antitrypsin in hepatocytes, endoplasmic reticulum stress, low circulating levels of α1-antitrypsin and liver disease. Currently, there is no cure for severe liver disease and the only management option is liver transplantation when liver failure is life-threatening. A1ATD-associated lung disease predominately occurs in adults and is caused principally by inadequate protease inhibition. Treatment of A1ATD-associated lung disease includes standard therapies that are also used for the treatment of COPD, in addition to the use of augmentation therapy (that is, infusions of human plasma-derived, purified α1-antitrypsin). New therapies that target the misfolded α1-antitrypsin or attempt to correct the underlying genetic mutation are currently under development.

Type: Article
Title: α1-Antitrypsin deficiency
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/nrdp.2016.51
Publisher version: https://doi.org/10.1038/nrdp.2016.51
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Genetic predisposition to disease, Liver diseases, Respiratory tract diseases
UCL classification: UCL
UCL > Provost and Vice Provost Offices > VP: Health
URI: https://discovery.ucl.ac.uk/id/eprint/10061015
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