Won Young Il, Lee Chang-Hyun, Yuh Woon Tak, Kwon Shin Won, Kim Chi Heon, Chung Chun Kee
Department of Neurosurgery, Seoul National University Hospital, Seoul, Korea.
Department of Neurosurgery, Chungnam National University Sejong Hospital, Sejong, Korea.
Neurospine. 2022 Jun;19(2):299-306. doi: 10.14245/ns.2244038.019. Epub 2022 Jun 30.
Despite numerous studies, the pathogenesis of ossification of the posterior longitudinal ligament (OPLL) is still unclear. Previous genetic studies proposed variations in genes related to bone and collagen as a cause of OPLL. It is unclear whether the upregulations of those genes are the cause of OPLL or an intermediate result of endochondral ossification process. Causal variations may be in the inflammation-related genes supported by clinical and updated genomic studies. OPLL demonstrates features of genetic diseases but can also be induced by mechanical stress by itself. OPLL may be a combination of various diseases that share ossification as a common pathway and can be divided into genetic and idiopathic. The phenotype of OPLL can be divided into continuous (including mixed) and segmental (including localized) based on the histopathology, prognosis, and appearance. Continuous OPLL shows substantial overexpression of osteoblast-specific genes, frequent upper cervical involvement, common progression, and need for surgery, whereas segmental OPLL shows moderate-to-high expression of these genes and is often clinically silent. Genetic OPLL seems to share clinical features with the continuous type, while idiopathic OPLL shares features with the segmental type. Further genomic studies are needed to elucidate the relationship between genetic OPLL and phenotype of OPLL.
尽管有大量研究，但后纵韧带骨化（OPLL）的发病机制仍不清楚。先前的遗传学研究提出，与骨骼和胶原蛋白相关的基因变异是OPLL的一个病因。尚不清楚这些基因的上调是OPLL的病因还是软骨内成骨过程的中间结果。临床和最新的基因组研究支持，因果变异可能存在于炎症相关基因中。OPLL表现出遗传疾病的特征，但自身也可由机械应力诱发。OPLL可能是多种以骨化为共同途径的疾病的组合，可分为遗传性和特发性。根据组织病理学、预后和外观，OPLL的表型可分为连续型（包括混合型）和节段型（包括局限型）。连续型OPLL表现为成骨细胞特异性基因大量过表达、颈椎上段受累频繁、进展常见且需要手术治疗，而节段型OPLL表现为这些基因中度至高度表达，且在临床上通常无症状。遗传性OPLL似乎与连续型具有共同临床特征，而特发性OPLL与节段型具有共同特征。需要进一步的基因组研究来阐明遗传性OPLL与OPLL表型之间的关系。
