Collagen transport and related pathways in Osteogenesis Imperfecta

Hum Genet. 2021 Aug;140(8):1121-1141. doi: 10.1007/s00439-021-02302-2. Epub 2021 Jun 24.

Abstract

Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone fragility and deformities as the main characteristics, albeit with different degrees of severity. Phenotypic variation also exists in other connective tissue aspects of the disease, complicating disease classification and disease course prediction. Although collagen type I defects are long established as the primary cause of the bone pathology, we are still far from comprehending the complete mechanism. In the last years, the advent of next generation sequencing has triggered the discovery of many new genetic causes for OI, helping to draw its molecular landscape. It has become clear that, in addition to collagen type I genes, OI can be caused by multiple proteins connected to different parts of collagen biosynthesis. The production of collagen entails a complex process, starting from the production of the collagen Iα1 and collagen Iα2 chains in the endoplasmic reticulum, during and after which procollagen is subjected to a plethora of posttranslational modifications by chaperones. After reaching the Golgi organelle, procollagen is destined to the extracellular matrix where it forms collagen fibrils. Recently discovered mutations in components of the retrograde transport of chaperones highlight its emerging role as critical contributor of OI development. This review offers an overview of collagen regulation in the context of recent gene discoveries, emphasizing the significance of transport disruptions in the OI mechanism. We aim to motivate exploration of skeletal fragility in OI from the perspective of these pathways to identify regulatory points which can hint to therapeutic targets.

Publication types

  • Review

MeSH terms

  • Bone and Bones / metabolism*
  • Bone and Bones / pathology
  • Collagen Type I / biosynthesis*
  • Collagen Type I / genetics
  • Endoplasmic Reticulum / genetics
  • Endoplasmic Reticulum / metabolism
  • Extracellular Matrix / chemistry
  • Extracellular Matrix / metabolism
  • Golgi Apparatus / genetics
  • Golgi Apparatus / metabolism
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Molecular Chaperones / genetics
  • Molecular Chaperones / metabolism
  • Mutation
  • Osteoblasts / metabolism*
  • Osteoblasts / pathology
  • Osteogenesis Imperfecta / genetics
  • Osteogenesis Imperfecta / metabolism*
  • Osteogenesis Imperfecta / pathology
  • Procollagen / biosynthesis*
  • Procollagen / genetics
  • Protein Biosynthesis
  • Protein Isoforms / biosynthesis
  • Protein Isoforms / genetics
  • Protein Processing, Post-Translational*
  • Protein Transport
  • Severity of Illness Index

Substances

  • Collagen Type I
  • Molecular Chaperones
  • Procollagen
  • Protein Isoforms