Genetics and Functional Pathology of Idiopathic Scoliosis

Terhune, Elizabeth A.; Baschal, Erin E.; Miller, Nancy H.

doi:10.1007/978-3-319-90149-7_7

Cited by 3 publications

(3 citation statements)

References 82 publications

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“…The most common etiopathogenesis of IS includes maturation disorders of the central and peripheral nervous system, connective tissue disorders in elastic and collagen fibers, muscle and bone diseases, platelet disorders, melatonin, hormone imbalances, genetic abnormalities, and leptin deficiency (essential in central nervous system development) [9][10][11]. Also, single nucleotide polymorphisms or any mutation related to ciliary functions and growth-regulating proteins may be related to IS development and progression [11][12][13].…”

Section: Discussionmentioning

confidence: 99%

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Cerebrospinal fluid velocity changes of idiopathic scoliosis: a preliminary study on 3-T PC-MRI and 3D-SPACE-VFAM data

2021

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Objectives To the best of our knowledge, there is no study on 3-Tesla (3-T) phase-contrast MRI (PC-MRI) and three-dimensional sampling perfection with application-optimized contrasts using different flip-angle evolutions (3D-SPACE-VFAM) in the evaluation of idiopathic scoliosis. This study aimed to investigate CSF abnormalities in the scoliotic spine using 3-T PC-MRI and 3D-SPACE-VFAM techniques. Methods Thirty-four patients and 14 controls were examined with spinal PC-MRI and T2-weighted 3D-SPACE-VFAM techniques. Inter-and intra-reader agreements of flow-void phenomenon on 3D-SPACE-VFAM images, and velocity values on PC-MRI data were also evaluated. Results There are statistically significant differences between scoliosis and control groups based on the highest and mean peak velocity values on PC-MRI images (p = 0.005 and p = 0.023, respectively). The main thoracic (MT) group's highest peak CSF velocity values were higher than the control group (p = 0.022). There is a significant difference between the patient and control groups regarding flow-void phenomenon scores on 3D-SPACE-VFAM images (p = 0.036). Inter-and intra-reader agreement values related to PC-MRI velocity measurements were perfect for all PC-MRI readings. Inter-and intra-reader agreement values of the flow-void phenomenon scores were moderate. Conclusions Our study has led us to conclude that idiopathic scoliosis is associated with CSF flow disturbances in parallel with the literature. MRI can demonstrate these abnormalities in a non-invasive and radiation-free way.

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Section: Discussionmentioning

confidence: 99%

“…It is supposed that there is a link between CSF flow disturbances and IS [4,13]. Mutations of ptk7 lead to a lack of ciliary activity and neuroinflammatory responses at the onset of spinal curve formation in zebrafish studies [2].…”

Section: Discussionmentioning

confidence: 99%

Cerebrospinal fluid velocity changes of idiopathic scoliosis: a preliminary study on 3-T PC-MRI and 3D-SPACE-VFAM data

2021

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“…9) and implementation of the Hueter-Volkmann principle is intuitive10, approaches based on biomechanical models were not able to offer radical cure or prevention. During the last few decades, the genetic nature of IS has been intensively investigated, but recent studies concluded that identification of genes determining the development of this disease is very difficult 11. Some studies have even achieved rather contradictory data.…”

Section: Introductionmentioning

confidence: 99%

A New Look at Causal Factors of Idiopathic Scoliosis: Altered Expression of Genes Controlling Chondroitin Sulfate Sulfation and Corresponding Changes in Protein Synthesis in Vertebral Body Growth Plates

et al. 2019

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Background: In a previous report, we demonstrated the presence of cells with a neural/glial phenotype on the concave side of the vertebral body growth plate in Idiopathic Scoliosis (IS) and proposed this phenotype alteration as the main etiological factor of IS. In the present study, we utilized the same specimens of vertebral body growth plates removed during surgery for Grade III-IV IS to analyse gene expression. We suggested that phenotype changes observed on the concave side of the vertebral body growth plate can be associated with altered expression of particular genes, which in turn compromise mechanical properties of the concave side.Methods: We used a Real-Time SYBR Green PCR assay to investigate gene expression in vertebral body growth plates removed during surgery for Grade III-IV IS; cartilage tissues from human fetal spine were used as a surrogate control. Special attention was given to genes responsible for growth regulation, chondrocyte differentiation, matrix synthesis, sulfation and transmembrane transport of sulfates. We performed morphological, histochemical, biochemical, and ultrastructural analysis of vertebral body growth plates.Results: Expression of genes that control chondroitin sulfate sulfation and corresponding protein synthesis was significantly lower in scoliotic specimens compared to controls. Biochemical analysis showed 1) a decrease in diffused proteoglycans in the total pool of proteoglycans; 2) a reduced level of their sulfation; 3) a reduction in the amount of chondroitin sulfate coinciding with raising the amount of keratan sulfate; and 4) reduced levels of sulfation on the concave side of the scoliotic deformity.Conclusion: The results suggested that altered expression of genes that control chondroitin sulfate sulfation and corresponding changes in protein synthesis on the concave side of vertebral body growth plates could be causal agents of the scoliotic deformity.

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Scoliosis in Adults and the Possibility of Its Correction by Post-Isometric Relaxation

Yermolaieva

Lukovskaya

Prysiazhniuk

et al. 2021

WOMAB

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Genetics and Functional Pathology of Idiopathic Scoliosis

Cited by 3 publications

References 82 publications

Cerebrospinal fluid velocity changes of idiopathic scoliosis: a preliminary study on 3-T PC-MRI and 3D-SPACE-VFAM data

Cerebrospinal fluid velocity changes of idiopathic scoliosis: a preliminary study on 3-T PC-MRI and 3D-SPACE-VFAM data

A New Look at Causal Factors of Idiopathic Scoliosis: Altered Expression of Genes Controlling Chondroitin Sulfate Sulfation and Corresponding Changes in Protein Synthesis in Vertebral Body Growth Plates

Scoliosis in Adults and the Possibility of Its Correction by Post-Isometric Relaxation

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