Journal
NATURE REVIEWS GENETICS
Volume 10, Issue 3, Pages 173-183Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nrg2520
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- National Health and Medical Research Council of Australia
- National Health and Medical Research Council Research Fellows
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Tissue-specific extracellular matrices (ECMs) are crucial for normal development and tissue function, and mutations in ECM genes result in a wide range of serious inherited connective tissue disorders. Mutations cause ECM dysfunction by combinations of two mechanisms. First, secretion of the mutated ECM components can be reduced by mutations affecting synthesis or by structural mutations causing cellular retention and/or degradation. Second, secretion of mutant protein can disturb crucial ECM interactions, structure and stability. Moreover, recent experiments suggest that endoplasmic reticulum (ER) stress, caused by mutant misfolded ECM proteins, contributes to the molecular pathology. Targeting ER stress might offer a new therapeutic strategy.
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