Osteogenesis imperfecta: Recent findings shed new light on this once well-understood condition

Basel, Donald; Steiner, Robert D.

doi:10.1097/gim.0b013e3181a1ff7b

Cited by 149 publications

(128 citation statements)

References 63 publications

Supporting

Mentioning

118

Contrasting

Unclassified

Order By: Relevance

“…Although several clinical subtypes of OI have recently been identified based on the clinical, biochemical, and molecular nature of the disorder [4,6], many clinicians still commonly use the Silence classification with the description of four types of OI [91]. This classification was largely based on clinical and radiological subgrouping before the identification of a molecular defect of Type I collagen [6,91].…”

Section: The Effect Of Collagen Disorders On Bone Qualitymentioning

confidence: 99%

“…This classification was largely based on clinical and radiological subgrouping before the identification of a molecular defect of Type I collagen [6,91]. Recent classifications have included eight types of OI [6], with recent findings suggesting abnormal collagen folding may contribute to further subtypes of OI (Type IX) [4].…”

Section: The Effect Of Collagen Disorders On Bone Qualitymentioning

confidence: 99%

See 1 more Smart Citation

Diseases Affecting Bone Quality: Beyond Osteoporosis

Unnanuntana

Rebolledo

Khair

et al. 2011

Clinical Orthopaedics &Amp; Related Research

View full text Add to dashboard Cite

Background Bone quantity, quality, and turnover contribute to whole bone strength. Although bone mineral density, or bone quantity, is associated with increased fracture risk, less is known about bone quality. Various conditions, including disorders of mineral homeostasis, disorders in bone remodeling, collagen disorders, and drugs, affect bone quality. Questions/purposes The objectives of this review are to (1) identify the conditions and diseases that could adversely affect bone quality besides osteoporosis, and (2) evaluate how these conditions influence bone quality. Methods We searched PubMed using the keywords ''causes'' combined with ''secondary osteoporosis'' or ''fragility fracture.'' After identifying 20 disorders/conditions, we subsequently searched each condition to evaluate its effect on bone quality. Results Many disorders or conditions have an effect on bone metabolism, leading to fragility fractures. These disorders include abnormalities that disrupt mineral homeostasis, lead to an alteration of the mineralization process, and ultimately reduce bone strength. The balance between bone formation and resorption is also essential to prevent microdamage accumulation and maintain proper material and structural integrity of the bone. As a result, diseases that alter the bone turnover process lead to a reduction of bone strength. Because Type I collagen is the most abundant protein found in bone, defects in Type I collagen can result in alterations of material property, ultimately leading to fragility fractures. Additionally, some medications can adversely affect bone. Conclusions Recognizing these conditions and diseases and understanding their etiology and pathogenesis is crucial for patient care and maintaining overall bone health.

show abstract

Section: The Effect Of Collagen Disorders On Bone Qualitymentioning

confidence: 99%

Section: The Effect Of Collagen Disorders On Bone Qualitymentioning

confidence: 99%

Diseases Affecting Bone Quality: Beyond Osteoporosis

Unnanuntana

Rebolledo

Khair

et al. 2011

Clinical Orthopaedics &Amp; Related Research

View full text Add to dashboard Cite

show abstract

“…Очень важно прове-сти дифференциальную диагностику между травматиче-скими переломами, связанными в том числе с жестоким обращением с детьми, и состояниями, обусловленными повышенной хрупкостью костей. Такая патология описа-на при ряде наследственных болезней, связанных с нару-шением структуры и функции коллагенов, фибриллина [2]. К данной группе относят наследственные болезни соединительной ткани: синдром Элерса-Данло, синдром Марфана, несовершенный остеогенез и др.…”

Section: Introductionunclassified

Molecular and Genetic Basis of Hereditary Connective-Tissue Diseases Accompanied by Frequent Fractures

Тахировна¹,

Намазова-Баранова²,

Маргиева³

et al. 2016

Vopr. sovr. pediatr.

View full text Add to dashboard Cite

“…In the majority of cases the cause of the OI is the mutation in one of the two genes encoding procollagen type I polypeptide chains, namely COL1A1 and COL1A2. In recent years, however, new evidence surfaced shading light on other genes, which when mutated might lead to autosomal recessive forms of OI although both procollagen genes do not show the mutation [8][9][10][11]. The incorrect genes both encoding procollagen type I and potential disturbances in its posttranslational processing are the major causes of poor quality of extracellular matrix, regardless lower collagen content or its poor stability.…”

Section: Introductionmentioning

confidence: 99%

Cell therapy of a patient with type III <i>osteogenesis imperfecta</i> caused by mutation in <i>COL1A2</i> gene and unstable collagen type I

Majka¹,

Janeczko²,

Goździk³

et al. 2013

OJGen

View full text Add to dashboard Cite

The allogenic bone marrow derived mesenchymal stem cells transplantation was given to the newborn girl diagnosed with osteogenesis imperfecta type III, with multiple bone fractures, extreme shortness and limbs deformities. The treatment was performed at the age of 4 and 6 weeks. The clinical diagnosis was supported by biochemical analysis of collagen type I recovered from culture medium of cultivated patient's skin fibroblast, which revealed its triple helix instability at temperature about 2˚C lower than normal. Sequencing of both genes encoding procollagen type I revealed heterozygous substitution G23569A in COL1A2 gene causing change of glycine at position 517 to aspartate. The donor of mesenchymal stem cells was the girl's father. She received two intravenous infusions of suspended cultured mesenchymal cells in 16 days apart without any side effects. An analysis of procollagen type I secreted to the culture medium by bone marrow-derived mesenchymal stem cells obtained from the patient, 3 months following transplantation revealed its normal triple helix stability. During the subsequent two years of follow up two new bone fractures were noted. Currently a twoyear-old girl's presents extreme growth and weight deficiency. The motoric development is also retarded, but the patient constantly improves and makes progresses.

show abstract

Osteogenesis imperfecta: Recent findings shed new light on this once well-understood condition

Cited by 149 publications

References 63 publications

Diseases Affecting Bone Quality: Beyond Osteoporosis

Diseases Affecting Bone Quality: Beyond Osteoporosis

Molecular and Genetic Basis of Hereditary Connective-Tissue Diseases Accompanied by Frequent Fractures

Cell therapy of a patient with type III <i>osteogenesis imperfecta</i> caused by mutation in <i>COL1A2</i> gene and unstable collagen type I

Contact Info

Product

Resources

About

Osteogenesis imperfecta: Recent findings shed new light on this once well-understood condition

Cited by 149 publications

References 63 publications

Diseases Affecting Bone Quality: Beyond Osteoporosis

Diseases Affecting Bone Quality: Beyond Osteoporosis

Molecular and Genetic Basis of Hereditary Connective-Tissue Diseases Accompanied by Frequent Fractures

Cell therapy of a patient with type III &lt;i&gt;osteogenesis imperfecta&lt;/i&gt; caused by mutation in &lt;i&gt;COL1A2&lt;/i&gt; gene and unstable collagen type I

Contact Info

Product

Resources

About

Cell therapy of a patient with type III <i>osteogenesis imperfecta</i> caused by mutation in <i>COL1A2</i> gene and unstable collagen type I