Universität zu Köln

Rehberg, Mirko, Etich, Julia, Lessmeier, Lennart, Sill, Helge, Netzer, Christian and Semler, Oliver (2019). Osteogenesis imperfecta: Pathophysiology and current treatment strategies. Med. Genet., 31 (4). S. 372 - 382. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

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Abstract

Osteogenesis imperfecta (OI) is a hereditary disease of the bones and fascia. It is associated with an increased tendency to fracture, deformities of the extremities, and extra-skeletal signs. A short description of the clinical course, diagnostic recommendations and the current treatment are followed by an extensive overview of the genetic and pathophysiological background of the disease and future therapeutic options. Approximately 80% of patients present with mutations in genes coding for collagen (COL1A1/A2). In these patients, no clear correlation between phenotype and genotype is described for the collective. Stop mutations usually cause a quantitative collagen defect, which results in less normal collagen and a mild phenotype. Missense mutations lead to structurally changed collagen (qualitative defect) and to a more severe phenotype. Nonetheless, there is high variability and it is difficult to predict the course of an individual patient. In addition to changes in the collagen coding genes, there are mutations that affect the modification and secretion of collagen. A specific group consists of genes involved in the differentiation of osteoblasts. As with the other genes (which are not referred to in more detail), these are often superior genes, whose function in osteogenesis is not fully understood. Based on the pathophysiological principles, existing treatments may well be more precisely deployed in the future. An example is the receptor activator of nuclear factor kappa-B ligand (RANKL) antibody denosumab, which is more specific than bisphosphonates, and is already used in OI type VI (SERPINF1). Further treatments such as antisclerostin or stem cell therapies are currently being investigated with a focus on pathophysiology.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Rehberg, Mirko UNSPECIFIED UNSPECIFIED UNSPECIFIED Etich, Julia UNSPECIFIED UNSPECIFIED UNSPECIFIED Lessmeier, Lennart UNSPECIFIED UNSPECIFIED UNSPECIFIED Sill, Helge UNSPECIFIED UNSPECIFIED UNSPECIFIED Netzer, Christian UNSPECIFIED UNSPECIFIED UNSPECIFIED Semler, Oliver UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-125053
DOI:	10.1007/s11825-020-00287-3
Journal or Publication Title:	Med. Genet.
Volume:	31
Number:	4
Page Range:	S. 372 - 382
Date:	2019
Publisher:	SPRINGER HEIDELBERG
Place of Publication:	HEIDELBERG
ISSN:	1863-5490
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MUTATIONS; CHILDREN; FORM; IDENTIFICATION; ADOLESCENTS; PAMIDRONATE; FKBP65; ADULTS; HSP47 Multiple languages Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/12505