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Cystic Fibrosis

Premature Degradation of Mutant Proteins as a Molecular Disease Mechanism

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Protein Misfolding and Disease

Part of the book series: Methods in Molecular Biology™ ((MIMB,volume 232))

Abstract

Cystic fibrosis (CF) is the most common autosomal recessive genetic disorder in the Caucasian population, with 1 out of every 2000 live births affected by this disease (1,2). The symptoms of CF appear in early childhood, and although the duration of the disease depends strongly on the severity of symptoms and availability of treatment options, it generally becomes fatal by the age of 30–40. The hallmark of the disease is the abnormal viscosity of mucous secretions resulting from the altered electrolyte transport across epithelial cell membranes. CF symptoms include pancreatic and gastrointestinal (GI) insufficiency, recurring lung infections, obstruction of sinuses, and male infertility. These pleiotropic symptoms arise as a result of mutations in a single gene, termed cystic fibrosis transmembrane conductance regulator (CFTR) (3–5). Understanding the mechanisms of biogenesis, folding, and degradation of the CFTR gene product is crucial for unraveling the molecular basis of CF pathogenesis, and will be the focus of this chapter.

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Authors and Affiliations

  1. Department of Biological Sciences, Stanford University, Stanford, CA

    Marina S. Gelman & Ron R. Kopito

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  1. Marina S. Gelman
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  2. Ron R. Kopito
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Editors and Affiliations

  1. Research Unit for Molecular Medicine, Skejby Sygehus, Aarhus, Denmark

    Peter Bross  & Niels Gregersen  & 

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© 2003 Humana Press Inc., Totowa, NJ

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Gelman, M.S., Kopito, R.R. (2003). Cystic Fibrosis. In: Bross, P., Gregersen, N. (eds) Protein Misfolding and Disease. Methods in Molecular Biology™, vol 232. Humana Press. https://doi.org/10.1385/1-59259-394-1:27

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  • DOI: https://doi.org/10.1385/1-59259-394-1:27

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-065-6

  • Online ISBN: 978-1-59259-394-1

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