Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments.
Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments.
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弥漫性特于特发性骨骼肌肿瘤的遗传学和脊柱韧带的骨化。
DOI：
10.1007/s11914-023-00814-6
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发表时间：
2023-10
影响因子：
4.3
通讯作者：
中科院分区：
文献类型：
--
作者：
本研究旨在提供与诊断为弥漫性特发性骨质增生症(DISH)、后纵韧带骨化(OPLL)以及脊柱韧带骨化患者相关的遗传因素的最新信息。最近的研究提高了我们对DISH、OPLL和其他脊柱骨化(前纵韧带骨化[OALL]和黄色韧带骨化[OYL])相关遗传因素的了解。几个患有单基因疾病的个体的案例研究，如X-连锁低磷血症(XLH)，表明成纤维细胞生长因子23相关的低磷血症与OPLL有很强的相关性，这表明PHEX、ENPP1和DMP1的致病变异与FGF23-磷酸消耗表型和强烈的遗传因素有关，使患者面临OPLL的风险。此外，新的证据表明，ENPP1杂合性和复合杂合性ENPP1致病变异体导致的‘常染色体隐性遗传性低磷血症2型软骨病’(ARHR2)也使患者面临DISH和OPLL的风险，可能是由于抑制异位钙化和末端矿化的抑制性血浆焦磷酸(PPI)的丧失。我们的研究结果强调了遗传和血浆生物标记物筛选在DISH和OPLL患者临床评估中的重要性，血浆PPI构成了一个重要的新生物标记物，用于识别其病程可能对ENPP1酶治疗有反应的DISH和OPLL患者，目前正在进行罕见钙化性疾病的临床试验。
The study aims to provide updated information on the genetic factors associated with the diagnoses ‘Diffuse Idiopathic Skeletal Hyperostosis’ (DISH), ‘Ossification of the Posterior Longitudinal Ligament’ (OPLL), and in patients with spinal ligament ossification. Recent studies have advanced our knowledge of genetic factors associated with DISH, OPLL, and other spinal ossification (ossification of the anterior longitudinal ligament [OALL] and the yellow ligament [OYL]). Several case studies of individuals afflicted with monogenic disorders, such as X-linked hypophosphatemia (XLH), demonstrate the strong association of fibroblast growth factor 23-related hypophosphatemia with OPLL, suggesting that pathogenic variants in PHEX, ENPP1, and DMP1 are associated with FGF23-phosphate wasting phenotype and strong genetic factors placing patients at risk for OPLL. Moreover, emerging evidence demonstrates that heterozygous and compound heterozygous ENPP1 pathogenic variants inducing ‘Autosomal Recessive Hypophosphatemic Rickets Type 2’ (ARHR2) also place patients at risk for DISH and OPLL, possibly due to the loss of inhibitory plasma pyrophosphate (PPi) which suppresses ectopic calcification and enthesis mineralization. Our findings emphasize the importance of genetic and plasma biomarker screening in the clinical evaluation of DISH and OPLL patients, with plasma PPi constituting an important new biomarker for the identification of DISH and OPLL patients whose disease course may be responsive to ENPP1 enzyme therapy, now in clinical trials for rare calcification disorders.
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DOI：
10.5535/arm.2014.38.1.1
发表时间：
2014-02
期刊：
Annals of rehabilitation medicine
影响因子：
--
作者：
Kim DH;Yun DH;Kim HS;Min SK;Yoo SD;Lee KH;Kim KT;Jo DJ;Kim SK;Chung JH;Ban JY;Lee SY
通讯作者：
Lee SY
使用ATP硫酶方法的儿童中血浆焦磷酸血浆水平的参考范围。
DOI：
10.1210/clinem/dgab615
发表时间：
2022-01-01
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
--
作者：
Bernhard E;Nitschke Y;Khursigara G;Sabbagh Y;Wang Y;Rutsch F
通讯作者：
Rutsch F
影响因子：
5.6
作者：
Dąbrowski M;Kubaszewski Ł
通讯作者：
Kubaszewski Ł
影响因子：
27.4
作者：
FORESTIER, J;ROTESQUEROL, J
通讯作者：
ROTESQUEROL, J
影响因子：
6.2
作者：
Furushima, K;Shimo-Onoda, K;Inoue, I
通讯作者：
Inoue, I