Alterations of a serum marker of collagen X in growing children with osteogenesis imperfecta.
Alterations of a serum marker of collagen X in growing children with osteogenesis imperfecta.
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DOI：
10.1016/j.bone.2021.115990
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发表时间：
2021-08
期刊：
影响因子：
4.1
通讯作者：
Orwoll E
中科院分区：
文献类型：
--
作者：
Nicol LE;Coghlan RF;Cuthbertson D;Nagamani SCS;Lee B;Olney RC;Horton W;Members of the Brittle Bone Disease Consortium;Orwoll E
I型胶原蛋白的结构和/或加工异常引起骨生成障碍，并导致骨脆性、骨生长异常和身材矮小。I型胶原蛋白在生长板中表达，但I型胶原蛋白异常导致生长板功能障碍和生长迟缓的机制尚不清楚。X型胶原（CXM）的非胶原结构域（NC 1）从活性生长板的肥大区释放，是新的软骨内骨形成的标志物。血清CXM水平与健康儿童的生长速度密切相关。我们假设，与正常生长的儿童相比，患有OI的儿童的CXM水平将是异常的。我们使用来自脆性骨疾病协会自然史研究的参与者，分析了187例OI受试者（89例I型和98例III/IV型）中8个月至40岁的CXM分布，并分析了100例16岁以下OI儿童（44例I型和56例III/IV型）的生长速度与CXM水平之间的关系。对照组和OI儿童的CXM水平表现出相似的年龄变化模式，在生命早期和青春期水平较高，随后是青春期后下降。然而，在OI队列中存在较大的变异性，与生长速度的关系较弱。与对照组相比，III/IV型OI儿童的CXM水平与生长速度的比值升高。这些结果表明，肥大区的功能和骨骼生长的终点之间的关系被破坏的OI。
Abnormalities in the structure and/or processing of type I collagen cause osteogenesis imperfecta and result in bone fragility, abnormal bone growth and short stature. Type I collagen is expressed in the growth plate but the mechanisms by which abnormalities in collagen I contribute to growth plate dysfunction and growth retardation are unknown. The non-collagenous domain (NC1) of type X collagen (CXM) is released from the hypertrophic zone of active growth plates and is a marker for new endochondral bone formation. Serum CXM levels are strongly correlated with the rate of growth in healthy children. We hypothesized that CXM levels in children with OI would be abnormal when compared to normally growing children. Using participants from the Brittle Bone Disease Consortium Natural History Study we analyzed the distribution of CXM over the ages of 8 months to 40 years in 187 subjects with OI (89 type I and 98 types III/IV) as well as analyzed the relationship between growth velocity and CXM levels in a subset 100 children < 16 years old with OI (44 type I and 56 types III/IV). CXM levels in both control and OI children demonstrated a similar pattern of variation by age with higher levels in early life and puberty followed by a post-pubertal drop. However, there was greater variability within the OI cohort and the relationship with growth velocity was weaker. The ratio of CXM level to growth velocity was elevated in children with type III/IV OI compared to controls. These results suggest that the relationship between hypertrophic zone function and the end point of skeletal growth is disrupted in OI.
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影响因子：
17.1
作者：
Coghlan RF;Oberdorf JA;Sienko S;Aiona MD;Boston BA;Connelly KJ;Bahney C;LaRouche J;Almubarak SM;Coleman DT;Girkontaite I;von der Mark K;Lunstrum GP;Horton WA
通讯作者：
Horton WA
DOI：
10.1002/ajmg.a.32508
发表时间：
2008-11-01
期刊：
American journal of medical genetics. Part A
影响因子：
--
作者：
Obafemi AA;Bulas DI;Troendle J;Marini JC
通讯作者：
Marini JC
DOI：
10.1302/0301-620x.72b3.2187879
发表时间：
1990-05-01
影响因子：
--
作者：
SANGUINETTI, C;GRECO, F;FALCIGLIA, F
通讯作者：
FALCIGLIA, F
影响因子：
4.2
作者：
Yamasaki, A;Itabashi, M;Nagai, N
通讯作者：
Nagai, N
影响因子：
2
作者：
Machol, Keren;Hadley, Trevor D.;Rauch, Frank
通讯作者：
Rauch, Frank