BACKGROUND: Osteogenesis imperfecta is a heterogeneous genetic disorder characterized by bone fragility. Previous research suggests that impaired collagen network and abnormal mineralization affect bone tissue properties, however, little data is yet available to describe bone material properties in individuals with this disorder. Bone material properties have not been characterized in individuals with the most common form of osteogenesis imperfecta, type I. METHODS: Bone tissue elastic modulus and hardness were measured by nanoindentation in eleven osteotomy specimens that were harvested from children with osteogenesis imperfecta during routine surgeries. These properties were compared between osteogenesis imperfecta types I (mild, n=6) and III (severe, n=5), as well as between interstitial and osteonal microstructural regions using linear mixed model analysis. FINDINGS: Disease severity type had a small but statistically significant effect on modulus (7%, P=0.02) and hardness (8%, P<0.01). Individuals with osteogenesis imperfecta type I had higher modulus and hardness than did those with type III. Overall, mean modulus and hardness values were 13% greater in interstitial lamellar bone regions than in osteonal regions (P<0.001). INTERPRETATION: The current study presents the first dataset describing bone material properties in individuals with the most common form of osteogenesis imperfecta, i.e., type I. Results indicate that intrinsic bone tissue properties are affected by phenotype. Knowledge of the material properties of bones in osteogenesis imperfecta will contribute to the ability to develop models to assist in predicting fracture risk.
BACKGROUND:Osteogenesis imperfecta is a heterogeneous genetic disorder characterized by bone fragility. Previous research suggests that impaired collagen network and abnormal mineralization affect bone tissue properties, however, little data is yet available to describe bone material properties in individuals with this disorder. Bone material properties have not been characterized in individuals with the most common form of osteogenesis imperfecta, type I. METHODS: Bone tissue elastic modulus and hardness were measured by nanoindentation in eleven osteotomy specimens that were harvested from children with osteogenesis imperfecta during routine surgeries. These properties were compared between osteogenesis imperfecta types I (mild, n=6) and III (severe, n=5), as well as between interstitial and osteonal microstructural regions using linear mixed model analysis. FINDINGS: Disease severity type had a small but statistically significant effect on modulus (7%, P=0.02) and hardness (8%, P<0.01). Individuals with osteogenesis imperfecta type I had higher modulus and hardness than did those with type III. Overall, mean modulus and hardness values were 13% greater in interstitial lamellar bone regions than in osteonal regions (P<0.001). INTERPRETATION: The current study presents the first dataset describing bone material properties in individuals with the most common form of osteogenesis imperfecta, i.e., type I. Results indicate that intrinsic bone tissue properties are affected by phenotype. Knowledge of the material properties of bones in osteogenesis imperfecta will contribute to the ability to develop models to assist in predicting fracture risk.
Authors: S Blouin; N Fratzl-Zelman; A Roschger; W A Cabral; K Klaushofer; J C Marini; P Fratzl; P Roschger Journal: J Mech Behav Biomed Mater Date: 2018-10-11
Authors: Sanne Treurniet; Elisabeth M W Eekhoff; Felix N Schmidt; Dimitra Micha; Björn Busse; Nathalie Bravenboer Journal: Front Endocrinol (Lausanne) Date: 2020-06-23 Impact factor: 5.555
Authors: E H Campanini; D Baker; P Arundel; N J Bishop; A C Offiah; S Keigwin; S Cadden; E Dall'Ara; N Nicolaou; S Giles; J A Fernandes; M Balasubramanian Journal: Bone Rep Date: 2021-07-01