Conformational diseases

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Definition
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Diseases caused by a defective folding (conformation) of proteins. In cystic fibrosis (cystic fibrosis), for example, improperly folded chloride channels lead to mucus in the airways and the resulting respiratory problems.

Incorrectly folded proteins lead to prion diseases such as BSE, scrapie or a variant of Creutzfeldt-Jakob disease.

Amyloidoses, as protein storage diseases, also belong to the group of conformational diseases with rearrangements of proteins in a beta-pleated structure. To date, > 20 different proteins are known to cause amyloidosis in humans. They are named according to the type of stored protein, with the abbreviation of the stored protein appended to the abbreviation "A" for "amyloid":

Literature
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  1. Espargaró A et al (2016) Key Points Concerning Amyloid Infectivity and Prion-Like Neuronal Invasion. Front Mol Neurosci 9:29.

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Last updated on: 29.10.2020