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表观遗传调控在脊柱韧带骨化中的作用研究进展
引用本文:林甲亮,向乾,赵永昭,姜帅,李危石.表观遗传调控在脊柱韧带骨化中的作用研究进展[J].中华骨科杂志,2022(2):121-128.
作者姓名:林甲亮  向乾  赵永昭  姜帅  李危石
作者单位:北京大学第三医院骨科
基金项目:国家自然科学基金(82172480)。
摘    要:脊柱韧带骨化以脊柱韧带组织内出现病理性骨组织为特征,好发于颈段和胸段,是造成椎管狭窄的重要病因。骨化块对脊髓或神经根的压迫可导致严重的神经功能障碍,给患者生活质量带来巨大影响。目前脊柱韧带骨化的具体病因及发病机制尚不明确。表观遗传调控在生物体内广泛存在,指在不改变基因组DNA序列的前提下使生物体出现具有可遗传的基因表达...

关 键 词:脊柱韧带骨化  表观遗传调控  椎管狭窄  神经功能障碍  DNA甲基化  颈段  神经根  基因芯片

Research progress of epigenetic regulation in the ossification of spinal ligaments
Lin Jialiang,Xiang Qian,Zhao Yongzhao,Jiang Shuai,Li Weishi.Research progress of epigenetic regulation in the ossification of spinal ligaments[J].Chinese Journal of Orthopaedics,2022(2):121-128.
Authors:Lin Jialiang  Xiang Qian  Zhao Yongzhao  Jiang Shuai  Li Weishi
Institution:(Department of Orthopaedics,Peking University Third Hospital,Beijing Key Laboratory of Spinal Disease Research,Engineering Research Center of Bone and Joint Precision Medicine,Ministry of Education,Beijing 100191,China)
Abstract:Ossification of the spinal ligaments(OSL)is characterized by the appearance of pathologic bone tissue within the spinal ligamentous tissue.OSL tends to occur in the cervical and thoracic segments with important cause of spinal stenosis.Compression of the spinal cord or nerve roots by ossified masses can lead to severe neurological dysfunction,which has a tremendous impact on the quality of life of patients.However,the exact etiology and pathogenesis of OSL are still unclear.Epigenetic regulation is widespread in organisms and refers to the appearance of heritable changes in gene expression without alteration in genomic DNA sequence.As an important form of biodiversity regulation,epigenetic regulation plays an important role in development of several diseases.Epigenetic regulation has multiple manifestations in OSL,including DNA methylation,histone modifications,and non-coding RNA regulation.Sequencing tools,such as gene microarrays,have revealed significant differences in DNA methylation profiles and non-coding RNA expression between ossified and normal spinal ligaments.These differences can cause abnormal expression of osteogenesis-related target genes through direct or indirect pathways,thus affecting the ossification process of spinal ligaments.In addition,interactions between these epigenetic regulatory mechanisms constitute a large and complex regulatory network.Consequently,an in-depth understanding of the role of different epigenetic regulatory mechanisms and the linkages between them in the initiation and progression stages of OSL is expected to provide a valuable reference for the clinical diagnosis and treatment of OSL-related diseases.
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