Abstract
Objective. To study pathogenetic mechanisms of the development of spinal deformity in neurofibromatosis. Material and Methods. Structural components of the spine were presented as specimens obtained after surgical correction of spinal deformity performed in 10 children with III–IV grade scoliosis associated with neurofibromatosis. Tissues were investigated by conventional histochemical and ultrastructural methods. The levels of aggrecan and lumnican gene expression were studied using PCR method. Results. Etiologic factor of the development of spinal deformity in neurofibromatosis is a mutation of the NF-1 gene in cells of ganglious lamella. Migration of cells carrying mutant gene into one of the sclerotome zones results in oncogene activation and intensive proliferation of chondro-, osteo-, and fibroblasts in the growth plate, intervertebral disc, and vertebral body. Since the mutation involves the earliest stages of embriogenesis, the formation of definitive structural components in pathologically altered zones is disturbed. Conclusion. Progressive development of the spinal deformity after surgical intervention is accounted both for proliferation of chondro- and fibroblasts in the vertebral body and intervertebral disc and for disturbance of the lumnican gene expression.
Highlights
Structural and Functional Peculiarities of Spine Deformity Development in Neurofibromatosis NF-1 A.M
Etiologic factor of the development of spinal deformity in neurofibromatosis is a mutation of the NF-1 gene in cells of ganglious lamella
Progressive development of the spinal deformity after surgical intervention is accounted both for proliferation of chondro- and fibroblasts in the vertebral body and intervertebral disc and for disturbance of the lumnican gene expression
Summary
Структурно-функциональные особенности деформации позвоночника при нейрофиброматозе NF-1. Изучение патогенетических механизмов формирования деформации позвоночника при нейрофиброматозе. Исследованы структурные компоненты позвоночника, полученные в ходе коррекции деформации от 10 детей с III–IV степенью сколиоза на почве нейрофиброматоза. Уровень экспрессии генов агрекана и люмникана изучен методом ПЦР-реакций. Этиологическим фактором формирования деформации позвоночника при нейрофиброматозе является мутация в клетках ганглиозной пластинки гена NF-1. Несущих мутантный ген в одну из зон склеротома, приводит к активации онкогена и интенсивной пролиферации хондро-, остео- и фибробластов в пластинке роста, межпозвонковом диске и теле позвонка. Продолженный процесс деформации позвоночника после оперативного вмешательства объясняется пролиферацией хондро- и фибробластов в теле позвонка и межпозвонковом диске и нарушением экспрессии гена люмникана. Ключевые слова: нейрофиброматоз, пластинка роста, склеротом, деформация позвоночника, экспрессия гена.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
