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Cartilage Collagens and Associated Disorders

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The Collagen Superfamily and Collagenopathies

Part of the book series: Biology of Extracellular Matrix ((BEM,volume 8))

Abstract

The tissue-specific extracellular matrix is important for normal development and tissue function, and therefore, mutations in genes responsible for ECM components cause a variety of serious inherited connective tissue disorders. In articular cartilage, the collagens are indispensably connected with the characteristic strength of the tissue. Cartilage disorders involve primarily alterations of collagen II, IX, and XI and the cartilage oligomeric protein (COMP). These diseases include a variety of clinical phenotypes from common osteoarthrosis to different types of mostly inherited chondrodysplasias. More than 100 distinct disorders of chondrodysplasias are described with different subclasses and disproportionate stature, short limbs, dwarfism, premature osteoarthrosis, and eye complications are typical findings for most of these disorders. The typical mutations in collagen genes are null mutations that result in the loss of protein and a reduction of total quantity of collagen protein in tissue. In contrast, small deletions or substitutions of bases can lead to the synthesis of mutated α-chains that are able to form a triple-helix. The altered molecule is secreted and results in a compromised supramolecular assembly with altered ECM suprastructures. In general, these human diseases are difficult to treat, especially when the pathological processes start before birth affecting the complete skeleton.

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Abbreviations

CNBr:

Cyanogen bromid

COMP:

Cartilage oligomeric protein

DFNA13:

Deafness, autosomal dominant, type 13 (DFNA-13)

ECM:

Extracellular matrix

EDM2:

Epiphyseal dysplasia, multiple, 2

ER stress:

Endoplasmic reticulum stress

FGF:

Fibroblast growth factor

MED:

Multiple epiphyseal dysplasia

NMD:

Nonsense-mediated decay

OA:

Osteoarthritis

OI:

Osteogenesis imperfecta

PTC:

Premature termination codon

SED:

Spondyloepiphyseal Dysplasia

SEMD:

Metaphyseal chondrodysplasia, Schmid type

UPR:

Unfolded protein response

VEGF:

Vascular endothelial growth factor

VNTR:

Variable number tandem repeats

Wnt:

Acronym of homologous wingless (wg) and Int-1

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  1. University Hospital Münster, Institute for Musculoskeletal Medicine, Münster, Germany

    Uwe Hansen

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  1. Uwe Hansen
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Correspondence to Uwe Hansen .

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  1. Institut de Génomique Fonctionnelle de Lyon, ENS de Lyon, UMR CNRS, Université Lyon 1, LYON CEDEX 07, France

    Florence Ruggiero

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Hansen, U. (2021). Cartilage Collagens and Associated Disorders. In: Ruggiero, F. (eds) The Collagen Superfamily and Collagenopathies. Biology of Extracellular Matrix, vol 8. Springer, Cham. https://doi.org/10.1007/978-3-030-67592-9_4

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