Recent developments in osteogenesis imperfecta

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

Osteogenesis imperfecta (OI) is an uncommon genetic bone disease associated with brittle bones and fractures in children and adults. Although OI is most commonly associated with mutations of the genes for type I collagen, many other genes (some associated with type I collagen processing) have now been identified. The genetics of OI and advances in our understanding of the biomechanical properties of OI bone are reviewed in this article. Treatment includes physiotherapy, fall prevention, and sometimes orthopedic procedures. In this brief review, we will also discuss current understanding of pharmacologic therapies for treatment of OI.

Related collections

Most cited references 113

Record: found
Abstract: found
Article: not found

Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis.

R M Neer, C Arnaud, J. Zanchetta … (2001)

Once-daily injections of parathyroid hormone or its amino-terminal fragments increase bone formation and bone mass without causing hypercalcemia, but their effects on fractures are unknown. We randomly assigned 1637 postmenopausal women with prior vertebral fractures to receive 20 or 40 microg of parathyroid hormone (1-34) or placebo, administered subcutaneously by the women daily. We obtained vertebral radiographs at base line and at the end of the study (median duration of observation, 21 months) and performed serial measurements of bone mass by dual-energy x-ray absorptiometry. New vertebral fractures occurred in 14 percent of the women in the placebo group and in 5 percent and 4 percent, respectively, of the women in the 20-microg and 40-microg parathyroid hormone groups; the respective relative risks of fracture in the 20-microg and 40-microg groups, as compared with the placebo group, were 0.35 and 0.31 (95 percent confidence intervals, 0.22 to 0.55 and 0.19 to 0.50). New nonvertebral fragility fractures occurred in 6 percent of the women in the placebo group and in 3 percent of those in each parathyroid hormone group (relative risk, 0.47 and 0.46, respectively [95 percent confidence intervals, 0.25 to 0.88 and 0.25 to 0.861). As compared with placebo, the 20-microg and 40-microg doses of parathyroid hormone increased bone mineral density by 9 and 13 more percentage points in the lumbar spine and by 3 and 6 more percentage points in the femoral neck; the 40-microg dose decreased bone mineral density at the shaft of the radius by 2 more percentage points. Both doses increased total-body bone mineral by 2 to 4 more percentage points than did placebo. Parathyroid hormone had only minor side effects (occasional nausea and headache). Treatment of postmenopausal osteoporosis with parathyroid hormone (1-34) decreases the risk of vertebral and nonvertebral fractures; increases vertebral, femoral, and total-body bone mineral density; and is well tolerated. The 40-microg dose increased bone mineral density more than the 20-microg dose but had similar effects on the risk of fracture and was more likely to have side effects.

0 comments Cited 791 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Romosozumab in postmenopausal women with low bone mineral density.

Michael McClung, Andreas Grauer, Steven Boonen … (2014)

Sclerostin is an osteocyte-derived inhibitor of osteoblast activity. The monoclonal antibody romosozumab binds to sclerostin and increases bone formation.

0 comments Cited 358 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Genetic heterogeneity in osteogenesis imperfecta.

D Sillence, A Senn, D M Danks (1979)

An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least four distinct syndromes at present called OI. The largest group of patients showed autosomal dominant inheritance of osteoporosis leading to fractures and distinctly blue sclerae. A large proportion of adults had presenile deafness or a family history of presenile conductive hearing loss. A second group, who comprised the majority of newborns with neonatal fractures, all died before or soon after birth. These had characteristic broad, crumpled femora and beaded ribs in skeletal x-rays. Autosomal recessive inheritance was likely for some, if not all, of these cases. A third group, two thirds of whom had fractures at birth, showed severe progressive deformity of limbs and spine. The density of scleral blueness appeared less than that seen in the first group of patients and approximated that seen in normal children and adults. Moreover, the blueness appeared to decrease with age. All patients in this group were sporadic cases. The mode of inheritance was not resolved by the study, but it is likely that the group is heterogeneous with both dominant and recessive genotypes responsible for the syndrome. The fourth group of patients showed dominant inheritance of osteoporosis leading to fractures, with variable deformity of long bones, but normal sclerae.

0 comments Cited 354 times – based on 0 reviews      Review now

Bookmark

All references

Author and article information

Journal

Journal ID (nlm-ta): F1000Res

Journal ID (iso-abbrev): F1000Res

Journal ID (pmc): F1000Research

Title: F1000Research

Publisher: F1000Research (London, UK )

ISSN (Electronic): 2046-1402

Publication date (Electronic): 7 September 2015

Publication date Collection: 2015

Volume: 4

Issue: F1000 Faculty Rev , F1000 Faculty Rev

Electronic Location Identifier: 681

Affiliations

[1 ]Endocrinology, Medical College of Wisconsin, Milwaukee, WI, USA

[2 ]Orthopaedic and Rehabilitation Engineering Center, Marquette University and Medical College of Wisconsin, Milwaukee, WI, USA

[3 ]Shriners Hospitals for Children, Chicago, IL, USA

[1 ]Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic College of Medicine, Rochester, MN, USA

[1 ]Division of Endocrinology, Diabetes and Bone & Mineral Disorders, Henry Ford Hospital, Detroit, MI, USA

[1 ]St. Vincent's University Hospital, Dublin, Ireland

Author notes

[a ] joseph.shaker@ 123456froedtert.com

Competing interests: JS is a consultant for Alexion Pharmaceuticals. The other authors declare that they have no competing interests.

Competing interests: No competing interests were disclosed.

Article

DOI: 10.12688/f1000research.6398.1

PMC ID: 4566283

PubMed ID: 26401268

SO-VID: ccba3fb9-7333-4c34-8660-70bd6ec377d5

License:

This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

History

Date accepted : 26 August 2015

Funding

The author(s) declared that no grants were involved in supporting this work.

Comments

Comment on this article

scite_

Cited by 13

See all cited by

Most referenced authors 1,497

See all reference authors

- Version 1
- Version 1

Recent developments in osteogenesis imperfecta

Read this article at

Abstract

Related collections

Computational epistasis

Most cited references 113

Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis.

Romosozumab in postmenopausal women with low bone mineral density.

Genetic heterogeneity in osteogenesis imperfecta.

Author and article information

Journal

Affiliations

Author notes

Article

History

Funding

Categories

Comments

Comment on this article

Similar content 142

Cited by 13

Most referenced authors 1,497