Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types.
IFITM5/BRIL
MBTPS2
PEDF
bone mass
bone mineralization
collagen synthesis
osteogenesis imperfecta
regulated intramembrane proteolysis
Journal
Endocrine reviews
ISSN: 1945-7189
Titre abrégé: Endocr Rev
Pays: United States
ID NLM: 8006258
Informations de publication
Date de publication:
12 01 2022
12 01 2022
Historique:
pubmed:
20
5
2021
medline:
26
4
2022
entrez:
19
5
2021
Statut:
ppublish
Résumé
Osteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous skeletal dysplasia characterized by bone fragility, growth deficiency, and skeletal deformity. Previously known to be caused by defects in type I collagen, the major protein of extracellular matrix, it is now also understood to be a collagen-related disorder caused by defects in collagen folding, posttranslational modification and processing, bone mineralization, and osteoblast differentiation, with inheritance of OI types spanning autosomal dominant and recessive as well as X-linked recessive. This review provides the latest updates on OI, encompassing both classical OI and rare forms, their mechanism, and the signaling pathways involved in their pathophysiology. There is a special emphasis on mutations in type I procollagen C-propeptide structure and processing, the later causing OI with strikingly high bone mass. Types V and VI OI, while notably different, are shown to be interrelated by the interferon-induced transmembrane protein 5 p.S40L mutation that reveals the connection between the bone-restricted interferon-induced transmembrane protein-like protein and pigment epithelium-derived factor pathways. The function of regulated intramembrane proteolysis has been extended beyond cholesterol metabolism to bone formation by defects in regulated membrane proteolysis components site-2 protease and old astrocyte specifically induced-substance. Several recently proposed candidate genes for new types of OI are also presented. Discoveries of new OI genes add complexity to already-challenging OI management; current and potential approaches are summarized.
Identifiants
pubmed: 34007986
pii: 6278058
doi: 10.1210/endrev/bnab017
pmc: PMC8755987
doi:
Substances chimiques
Collagen Type I
0
Collagen
9007-34-5
Interferons
9008-11-1
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
61-90Subventions
Organisme : Intramural NIH HHS
ID : Z01 HD000408
Pays : United States
Organisme : Intramural NIH HHS
ID : Z01 HD008830
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA HD000408
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA HD008830
Pays : United States
Informations de copyright
Published by Oxford University Press on behalf of the Endocrine Society 2021.
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