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脊髓性肌萎缩症的生物标志物：脊髓性肌萎缩症患者和健康对照者外周血中SMN的表达

Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls.

作者信息

Czech Christian, Tang Wakana, Bugawan Teodorica, Mano Calvin, Horn Carsten, Iglesias Victor Alejandro, Fröhner Stefanie, Zaworski Phillip G, Paushkin Sergey, Chen Karen, Kremer Thomas

机构信息

Roche Pharmaceutical Research & Early Development, Neuroscience, Roche Innovation Center Basel F. Hoffmann -La Roche, Basel.

Research - Genomics & Oncology, Roche Molecular Systems, Inc., Pleasanton, CA, United States of America.

出版信息

PLoS One. 2015 Oct 15;10(10):e0139950. doi: 10.1371/journal.pone.0139950. eCollection 2015.

DOI:10.1371/journal.pone.0139950
PMID:26468953
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4607439/
Abstract

Spinal muscular atrophy is caused by a functional deletion of SMN1 on Chromosome 5, which leads to a progressive loss of motor function in affected patients. SMA patients have at least one copy of a similar gene, SMN2, which produces functional SMN protein, although in reduced quantities. The severity of SMA is variable, partially due to differences in SMN2 copy numbers. Here, we report the results of a biomarker study characterizing SMA patients of varying disease severity. SMN copy number, mRNA and Protein levels in whole blood of patients were measured and compared against a cohort of healthy controls. The results show differential regulation of expression of SMN2 in peripheral blood between patients and healthy subjects.

摘要

脊髓性肌萎缩症是由5号染色体上SMN1基因的功能性缺失引起的，这导致受影响患者的运动功能逐渐丧失。脊髓性肌萎缩症患者至少有一个类似基因SMN2的拷贝，该基因能产生功能性SMN蛋白，尽管产量较低。脊髓性肌萎缩症的严重程度各不相同，部分原因是SMN2拷贝数的差异。在此，我们报告了一项生物标志物研究的结果，该研究对不同疾病严重程度的脊髓性肌萎缩症患者进行了特征分析。测量了患者全血中的SMN拷贝数、mRNA和蛋白质水平，并与一组健康对照进行了比较。结果显示，患者和健康受试者外周血中SMN2的表达调控存在差异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/97f3/4607439/cf578e9ff28d/pone.0139950.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/97f3/4607439/74d6c9d30dc7/pone.0139950.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/97f3/4607439/e6b8e0252480/pone.0139950.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/97f3/4607439/b02e07aa389c/pone.0139950.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/97f3/4607439/cf578e9ff28d/pone.0139950.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/97f3/4607439/74d6c9d30dc7/pone.0139950.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/97f3/4607439/e6b8e0252480/pone.0139950.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/97f3/4607439/b02e07aa389c/pone.0139950.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/97f3/4607439/cf578e9ff28d/pone.0139950.g004.jpg

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