Elevated plasma complement components in facioscapulohumeral dystrophy.
Elevated plasma complement components in facioscapulohumeral dystrophy.
复制标题
面肩肱营养不良患者血浆补体成分升高。
DOI：
10.1093/hmg/ddab364
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发表时间：
2022
影响因子：
3.5
通讯作者：
ReSolveNetwork
中科院分区：
文献类型：
--
作者：
Wong,Chao-Jen;Wang,Leo;Holers,VMichael;Frazer-Abel,Ashley;vanderMaarel,SilvèreM;Tawil,Rabi;Statland,JeffreyM;Tapscott,StephenJ;ReSolveNetwork
随着对面肩肱骨营养不良（FSHD）病理生理学的深入了解，一些治疗方法进入了临床试验，同时也增加了开发疾病活动和进展的生物标志物的需求。先前的多项研究表明，通过免疫检测，FSHD肌肉中编码补体途径成分的rna和相对广泛的活化补体复合物的早期升高。目前的研究检测了两个独立的FSHD队列和对照受试者的血浆，发现两个FSHD队列中补体成分升高。结合两个队列的受试者，确定了最能区分FSHD和对照组的补体因子。在FSHD组中，一部分受试者表现出多种补体成分的升高。总之，这些发现表明需要进一步的研究来确定补体活化的测量是否可以作为FSHD疾病活动性、进展和/或对治疗反应的非侵入性测量。此外，随着补体治疗方法的不断扩展，考虑精确靶向这一途径是适当的。
Advances in understanding the pathophysiology of facioscapulohumeral dystrophy (FSHD) have led to several therapeutic approaches entering clinical trials and an increased need to develop biomarkers of disease activity and progression. Multiple prior studies have shown early elevation of RNAs encoding components of the complement pathways and relatively widespread activated complement complexes by immunodetection in FSHD muscle. The current study tested plasma from two independent cohorts of FSHD and control subjects and found elevated complement components in both FSHD cohorts. Combining subjects from both cohorts identified complement factors that best distinguished FSHD and controls. Within the FSHD group, a subset of subjects showed elevation in multiple complement components. Together these findings suggest the need for future studies to determine whether measurements of complement activation can be used as a non-invasive measurement of FSHD disease activity, progression and/or response to therapies. In addition, with the ongoing expansion of complement therapeutic approaches, consideration for precision-based targeting of this pathway is appropriate.
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影响因子：
19.6
作者：
通讯作者：
--
影响因子：
3.3
作者：
Wang LH;Tawil R
通讯作者：
Tawil R
影响因子：
4.6
作者：
Sharif-Paghaleh E;Yap ML;Puhl SL;Badar A;Torres JB;Chuamsaamarkkee K;Kampmeier F;Smith RA;Clark J;Blower PJ;Sacks S;Mullen GE
通讯作者：
Mullen GE
影响因子：
9.1
作者：
Frisullo, Giovanni;Frusciante, Roberto;Ricci, Enzo
通讯作者：
Ricci, Enzo
面肩肱型肌营养不良症血清生物标志物的多重筛查。
影响因子：
3.3
作者：
Statland,Jeffrey;Donlin-Smith,ColleenM;Tapscott,StephenJ;vanderMaarel,Silvere;Tawil,Rabi
通讯作者：
Tawil,Rabi