Chapter title |
Cellular Models for the Serpinopathies
|
---|---|
Chapter number | 7 |
Book title |
Serpins
|
Published in |
Methods in molecular biology, September 2018
|
DOI | 10.1007/978-1-4939-8645-3_7 |
Pubmed ID | |
Book ISBNs |
978-1-4939-8644-6, 978-1-4939-8645-3
|
Authors |
Annamaria Fra, Emanuela D’Acunto, Mattia Laffranchi, Elena Miranda, Fra, Annamaria, D’Acunto, Emanuela, Laffranchi, Mattia, Miranda, Elena |
Abstract |
Our current knowledge about the cellular mechanisms underlying serpin-related disorders, the serpinopathies, is predominantly based on studies in cell culture models of disease, particularly for alpha-1 antitrypsin (AAT, SERPINA1) deficiency causing emphysema and the familial encephalopathy with neuroserpin (NS, SERPINI1) inclusion bodies (FENIB). FENIB, a neurodegenerative dementia, is caused by polymerization of NS (Miranda and Lomas, Cell Mol Life Sci 63:709-722, 2006; Roussel BD et al., Epileptic Disor 18:103-110, 2016), while AAT deficiency presents as a result of several divergent mutations in the AAT gene that cause lack of protein synthesis or complete intracellular degradation (null variants) or polymer formation (polymerogenic variants) (Lomas et al., J Hepatol 65:413-424, 2016; Greene et al., Nat Rev Dis Primers 2:16051, 2016; Ferrarotti et al. Orphanet J Rare D 9:172, 2014). Both diseases have been extensively modeled in cell culture systems by expressing mutant variants in a variety of ways. Here we describe the methodologies we follow in our cell model systems used to examine serpin disorders. |
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