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Essays Biochem. 2019 Aug 6. pii: EBC20180071. doi: 10.1042/EBC20180071. [Epub ahead of print]

Basement membrane collagens and disease mechanisms.

Author information

1
Institute of Cardiovascular and Medical Sciences, University of Glasgow, University Avenue, Glasgow G12 8QQ, United Kingdom.
2
Centre for Discovery Brain Sciences, Medical School, University of Edinburgh, Edinburgh EH16 4SB, United Kingdom.
3
Institute of Cardiovascular and Medical Sciences, University of Glasgow, University Avenue, Glasgow G12 8QQ, United Kingdom tom.vanagtmael@glasgow.ac.uk.

Abstract

Basement membranes (BMs) are specialised extracellular matrix (ECM) structures and collagens are a key component required for BM function. While collagen IV is the major BM collagen, collagens VI, VII, XV, XVII and XVIII are also present. Mutations in these collagens cause rare multi-systemic diseases but these collagens have also been associated with major common diseases including stroke. Developing treatments for these conditions will require a collective effort to increase our fundamental understanding of the biology of these collagens and the mechanisms by which mutations therein cause disease. Novel insights into pathomolecular disease mechanisms and cellular responses to these mutations has been exploited to develop proof-of-concept treatment strategies in animal models. Combined, these studies have also highlighted the complexity of the disease mechanisms and the need to obtain a more complete understanding of these mechanisms. The identification of pathomolecular mechanisms of collagen mutations shared between different disorders represent an attractive prospect for treatments that may be effective across phenotypically distinct disorders.

KEYWORDS:

collagen; extracellular matrix; genetics; model organisms; molecular basis of health and disease; molecular mechanisms

PMID:
31387942
DOI:
10.1042/EBC20180071

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