Incidence of mandibular distraction osteogenesis in Stickler Syndrome: Variation due to COL2A1 and COL11A1

Swanson, Douglas R.; Ba'th, Fadlullah; Zavala, Hanan; Chinnadurai, Siva; Roby, Brianne Barnett

doi:10.1016/j.ijporl.2021.110749

Cited by 3 publications

(3 citation statements)

References 8 publications

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“…COL9A1 and SOX9 are related to the genetic susceptibility of postmenopausal osteoporosis (Hongliang et al, 2020). Genetic mutations of COL2A1 and COL11A1 seen in Stickler Syndrome affect the incidence of mandibular distraction osteogenesis (Swanson et al, 2021).…”

Section: Discussionmentioning

confidence: 99%

Developmental Transcriptome Profiling of the Tibial Reveals the Underlying Molecular Basis for Why Newly Hatched Quails Can Walk While Newly Hatched Pigeons Cannot

Liu

Yang

et al. 2022

Front. Cell Dev. Biol.

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Birds can be classified into altricial and precocial species. The hatchlings of altricial birds cannot stand, whereas precocial birds can walk and run soon after hatching. It might be owing to the development of the hindlimb bones in the embryo stage, but the molecular regulatory basis underlying the divergence is unclear. To address this issue, we chose the altricial pigeon and the precocial Japanese quail as model animals. The data of tibia weight rate, embryonic skeletal staining, and tibia tissues paraffin section during the embryonic stage showed that the Japanese quail and pigeon have similar skeletal development patterns, but the former had a faster calcification rate. We utilized the comparative transcriptome approach to screen the genes and pathways related to this heterochronism. We separately analyzed the gene expression of tibia tissues of quail and pigeon at two consecutive time points from an inability to stand to be able to stand. There were 2910 differentially expressed genes (DEGs) of quail, and 1635 DEGs of pigeon, respectively. A total of 409 DEGs in common in the quail and pigeon. On the other hand, we compared the gene expression profiles of pigeons and quails at four time points, and screened out eight pairs of expression profiles with similar expression trends but delayed expression in pigeons. By screening the common genes in each pair of expression profiles, we obtained a gene set consisting of 152 genes. A total of 79 genes were shared by the 409 DEGs and the 152 genes. Gene Ontology analysis of these common genes showed that 21 genes including the COL gene family (COL11A1, COL9A3, COL9A1), IHH, MSX2, SFRP1, ATP6V1B1, SRGN, CTHRC1, NOG, and GDF5 involved in the process of endochondral ossification. These genes were the candidate genes for the difference of tibial development between pigeon and quail. This is the first known study on the embryo skeletal staining in pigeon. It provides some new insights for studying skeletal development mechanisms and locomotor ability of altricial and precocial bird species.

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Section: Discussionmentioning

confidence: 99%

Developmental Transcriptome Profiling of the Tibial Reveals the Underlying Molecular Basis for Why Newly Hatched Quails Can Walk While Newly Hatched Pigeons Cannot

Liu

Yang

et al. 2022

Front. Cell Dev. Biol.

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“…However, its application is limited because of the long clinical treatment period. In models of mandibular distraction osteogenesis, previous studies have highlighted the importance of Collagen Type II Alpha 1 (COL2A1), Collagen Type XI Alpha 1 (COL11A1), and Focal Adhesion Kinase (FAK) signals in new bone formation [7,8]. By gaining a deeper understanding of the mechanical principles underlying this therapy, it may be feasible to identify specific signaling molecules that promote bone formation under stretch tension.…”

Section: Introductionmentioning

confidence: 99%

Mechanical Stretch-Induced ATP Release from Osteocytes Promotes Osteogenesis of Bone Marrow Mesenchymal Stem Cells

Ru,

Gu,

Sun

et al. 2024

Discovery Medicine

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Background: Mandibular distraction osteogenesis (MDO) is a highly effective method for bone regeneration, commonly employed in treating craniofacial defects and deformities. Osteocytes sense mechanical forces in the pericellular space, relay external stimuli to biochemical changes, and send signals to other effector cells, including bone marrow mesenchymal stem cells (BM-MSCs), to regulate bone resorption and formation. Piezo1 potentially affects the secretion signal molecules of bone cells under mechanical stretch. The primary aim of this study was to enhance our comprehension of the molecular biology underlying this therapeutic approach and to identify specific signaling molecules that facilitate bone formation in response to stretch forces. Methods: Mechanical stretching was applied to negative controls and Piezo1 knockdown osteocyte-like MLO-Y4 cells. Alkaline phosphatase and Alizarin Red S staining were used to survey the osteogenic potential of BM-MSCs. The production and secretion content of adenosine triphosphate (ATP) was measured using ATP content determination analysis. Pathway-related and osteo-specific genes and proteins were evaluated using real-time polymerase chain reaction (RT-PCR), Western blots, and immunofluorescence. Mitochondrial organization was examined with a transmission electron microscope. Results: The conditioned medium of stretch-exposed MLO-Y4s significantly upregulated osteogenesis-related indicators of BM-MSCs (p < 0.001). The upregulation of BM-MSC osteogenesis was associated with ATP release from osteocytes. Mechanically induced calcium transfer and transcriptional coactivator with PDZ-binding motif (TAZ) nuclear translocation mediated by Piezo1 could promote mitochondrial fission and ATP release. Osteocytes detected stretch forces through Piezo1, triggering calcium influx, TAZ nuclear translocation, and ATP production. Conclusions: The stretch stimulation of Piezo1 induces calcium influx, which in turn promotes calcium-related TAZ nuclear translocation, changes in mitochondrial dynamics, and the release of ATP in osteocytes. This signaling cascade leads to an up-regulation in the osteogenic capacity of BM-MSCs. Mitochondrial energy metabolism of mechanosensitive protein Piezo1dependent and ATP release may provide a new effective intervention method for mechanically related bone remodeling.

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“…Patients with SS require frequent outpatient clinic visits and usually need to be admitted to hospitals due to surgery, complications or special treatments, all of which have an impact on daily life. In addition, physical abnormalities, especially in the face, are very typical of this syndrome and are negatively correlated with HRQoL and behavior [ 16 , 17 ]. Furthermore, studies that summarize the clinical manifestation and psychosocial factors in these children are necessary to obtain an early diagnosis [ 18 ] and a better understanding of factors that may influence the development of this population, which may be clinically relevant for future treatment goals related to bone disorders [ 19 ], pain and, consequently, loss of quality of life.…”

Section: Introductionmentioning

confidence: 99%

Quality of Life in Children and Adolescents with Stickler Syndrome in Spain

et al. 2022

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Objective: To describe the quality of life and daily functioning of Spanish children and adolescents living with Stickler syndrome (SS) and to estimate the prevalence of associated disease features in a representative sample. Methods: A cross-sectional study of children and adolescents with SS were recruited via telephone calls through the Spanish SS Association. All participants underwent a structured clinical interview and filled in questionnaires reporting their quality of life (EuroQol-5D, TSK-11, CHAQ and PedsQoL). The prevalence of the main features associated with the syndrome and the mean scores of the questionnaires were estimated with 95% confidence intervals (95% CI). Results: The recruited sample included 26 persons who were mainly children (mean age 10.4 ± 4.5 (SD) range: 5–14) and male (65.4%). The prevalence estimates of SS features were as follows: the presence of moderate pain (52%), hearing loss 67% (95% CI: 54.8 to 91.3) and myopia 96% (95% CI: 87.2 to 104.4). The mean scores of the QoL indices were as follows: 22.4 (95% CI: 19.2 to 25.5) (± 7.5) for TSK-11; 76.2 (95% CI: 68.8 to 83.6) (± 17.1) for PedsQoL, 0.8 (95% CI: 0.7 to 0.9) (± 0.3) for EQ-5D and 0.61 (95% CI: 0.24 to 1.0) (± 0.9) for the cHAQ functional index. Conclusions: Our results confirmed a high variability in syndrome-related manifestations, with a large prevalence of visual and hearing deficits, pain and maxillofacial alterations. These findings may facilitate the detection of the most prevalent problems in this population, which could be a target to be addressed during the treatment of children and adolescents with SS.

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Incidence of mandibular distraction osteogenesis in Stickler Syndrome: Variation due to COL2A1 and COL11A1

Cited by 3 publications

References 8 publications

Developmental Transcriptome Profiling of the Tibial Reveals the Underlying Molecular Basis for Why Newly Hatched Quails Can Walk While Newly Hatched Pigeons Cannot

Developmental Transcriptome Profiling of the Tibial Reveals the Underlying Molecular Basis for Why Newly Hatched Quails Can Walk While Newly Hatched Pigeons Cannot

Mechanical Stretch-Induced ATP Release from Osteocytes Promotes Osteogenesis of Bone Marrow Mesenchymal Stem Cells

Quality of Life in Children and Adolescents with Stickler Syndrome in Spain

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