An in vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients

Micha, Dimitra; Pals, Gerard; Smit, Theo H.; Ghazanfari, Samaneh

doi:10.1016/j.bbrc.2019.09.081

Cited by 5 publications

(2 citation statements)

References 40 publications

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“…The ratio of alpha1(I) to alpha2(I) chains was lower in OI than in controls, suggesting that the pathogenic variants in COL1A1 may result in alpha1(I) chain instability or higher synthesis of alpha2(I) chains. In normal human fibroblasts, concentrations of alpha1(I) and alpha2(I) chains show a ratio of approximately 2:1 (Micha et al, 2020 ). The concentrations of alpha1(I) and alpha2(I) chains seen in our groups remains not entirely understood.…”

Section: Discussionmentioning

confidence: 99%

Altered collagen I and premature pulmonary embryonic differentiation in patients withOItypeII

Storoni

Celli

Breur³

et al. 2023

Physiological Reports

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Pulmonary hypoplasia and respiratory failure are primary causes of death in patients with osteogenesis imperfecta (OI) type II. OI is a genetic skeletal disorder caused by pathogenic variants in genes encoding collagen type I. It is still unknown if the collagen defect also affects lung development and structure, causing lung hypoplasia in OI type II. The aim of this study was to investigate the intrinsic characteristics of OI embryonic lung parenchyma and to determine whether altered collagen type I may compromise airway development and lung structure. Lung tissue from nine fetuses with OI type II and six control fetuses, matched by gestational age, was analyzed for TTF‐1 and collagen type I expression by immunohistochemistry, to evaluate the state of lung development and amount of collagen. The differentiation of epithelium into type 2 pneumocytes during embryonic development was premature in OI type II fetuses compared to controls (p < 0.05). Collagen type I showed no significant differences between the two groups. However, the amount of alpha2(I) chains was higher in fetuses with OI and the ratio of alpha1(I) to alpha2(I) lower in OI compared to controls. Cell differentiation during lung embryonic development in patients with OI type II is premature and impaired. This may be the underlying cause of pulmonary hypoplasia. Altered cell differentiation can be secondary to mechanical chest factors or a consequence of disrupted type I collagen synthesis. Our findings suggest that collagen type I is a biochemical regulator of pulmonary cell differentiation, influencing lung development.

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Section: Discussionmentioning

confidence: 99%

Altered collagen I and premature pulmonary embryonic differentiation in patients withOItypeII

Storoni

Celli

Breur³

et al. 2023

Physiological Reports

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“…EDS is usually thought to be associated with decreased vascular stiffness, however, one paper has suggested an increased arterial stiffness occurs compared to controls 39 . Cell culture of fibroblasts indicates that there is a significant reduction in directional fiber orientation in EDS compared to normal 40 , suggesting a random distribution of fibers in the SSS could increase circumferential stiffness but decrease the longitudinal stiffness. If an increase in the sinus wall stiffness is an important component of MS, this may shed some light into why angioplasty of apparently normal variant venous narrowing in the neck veins of MS patients may have a therapeutic effect 41 .…”

Section: Discussionmentioning

confidence: 99%

Modelling of the dilated sagittal sinuses found in multiple sclerosis suggests increased wall stiffness may be a contributing factor

Bateman

Lechner‐Scott

Bateman³

2022

Sci Rep

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The cross-sectional area of the superior sagittal sinus (SSS) is larger in multiple sclerosis than normal and correlates with disease severity and progression. The sinus could be enlarged due to a decrease in the pressure difference between the lumen and the subarachnoid space, an increase in wall thickness or increased wall stiffness. The cross-sectional area of the SSS and straight sinus (ST) were measured in 103 patients with multiple sclerosis and compared to 50 controls. The cross-sectional area of the SSS and ST were increased by 20% and 13% compared to the controls (p = 0.005 and 0.02 respectively). The deflection of the wall of the sinus was estimated. The change in pressure gradient, wall thickness or elastic modulus between groups was calculated by modelling the walls as simply supported beams. To account for these findings, the modelling suggests either a 70% reduction in transmural venous pressure or a 2.4 fold increase in SSS wall stiffness plus an 11% increase in wall thickness or a combination of changes. An increase in sinus pressure, although the most straight forward possibility to account for the change in sinus size may exist in only a minority of patients. An increase in sinus wall stiffness and thickness may need further investigation.

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Osteogenesis Imperfecta and Related Diseases: Collagen I Alterations in Skeletal and Extraskeletal Tissues

Gatto,

Pérez Franco,

Hoyer-Kuhn

et al. 2024

Biology of Extracellular Matrix

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An in vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients

Abstract: An in vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients.

Cited by 5 publications

References 40 publications

Altered collagen I and premature pulmonary embryonic differentiation in patients withOItypeII

Altered collagen I and premature pulmonary embryonic differentiation in patients withOItypeII

Modelling of the dilated sagittal sinuses found in multiple sclerosis suggests increased wall stiffness may be a contributing factor

Osteogenesis Imperfecta and Related Diseases: Collagen I Alterations in Skeletal and Extraskeletal Tissues

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