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Folding defects in fibrillar collagens.

¹Department of Pathology, Box 357470, University of Washington, Seattle, WA 98195-7470, USA. pbyers@u.washington.edu

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences

|March 22, 2001

Summary

Genetic mutations affecting fibrillar collagen folding cause various disorders. Alterations in collagen structure impact tissue expression and lead to disease phenotypes, often resulting in abnormal protein aggregation.

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Area of Science:

Biochemistry
Genetics
Molecular Biology

Background:

Fibrillar collagens feature a long triple helix with glycine at every third position.
These collagen molecules assemble specifically into various types with tissue-specific distributions.
Mutations can disrupt collagen folding, leading to genetic disorders.

Purpose of the Study:

To investigate the impact of mutations on fibrillar collagen folding and their resulting genetic disorders.
To understand how alterations in collagen structure affect tissue expression and disease phenotype.

Main Methods:

Analysis of mutations affecting collagen folding, including substitutions, deletions, and insertions.
Examining the effects of mutations on triple helix structure, helical pitch, and fibril formation.
Correlating molecular defects with tissue-specific gene expression and resulting phenotypes.

Main Results:

Mutations altering folding of globular peptides, nucleation regions, or the triple helix bulk cause genetic disorders.
Substitutions for glycine residues in triple helical domains significantly affect folding and phenotype.
Deletions or insertions in the triple helix alter helical pitch, impacting fibril formation and leading to intracellular retention of abnormal collagen.

Conclusions:

Fibrillar collagen mutations disrupt normal folding and fibril assembly in the extracellular matrix.
The location and nature of mutations influence folding defects and phenotypic outcomes.
Many collagen mutations result in the retention of abnormal molecules within cells, contributing to disease pathogenesis.

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