Noninvasive urine-derived cell lines derived from neurological genetic patients
Noninvasive urine-derived cell lines derived from neurological genetic patients
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DOI：
10.1097/wnr.0b013e32835e2e44
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发表时间：
2013-03-06
期刊：
影响因子：
1.7
通讯作者：
Chen, Wan-Jin
中科院分区：
文献类型：
--
作者：
Zhang, Qi-Jie;He, Jin;Chen, Wan-Jin
许多主要的遗传性神经系统疾病的特点是儿童期发病、死亡率高且缺乏有效的治疗方法。对此类疾病的潜在机制了解甚少，部分原因是缺乏患者特异性样本。在本研究中，我们培养了此类患者的尿液沉渣，旨在探索尿液细胞培养物从患有罕见遗传性神经系统疾病的患者中获取标本的能力。我们收集了各种神经遗传患者的新鲜尿液；培养标本；产生不同的尿液细胞系；并通过形态学、逆转录 PCR 和免疫荧光对这些细胞系进行分类。然后，我们使用这些细胞系来检测脊髓性肌萎缩症和杜氏肌营养不良症中受影响的基因。我们成功地从脊髓性肌萎缩症、杜氏肌营养不良症、阵发性运动源性运动障碍和威尔逊病患者中建立了细胞系。所有建立的细胞系均由尿路上皮细胞和足细胞组成，并且具有与血液样本相同的基因缺陷。因此，尿细胞培养是一种新的、简单的、非侵入性的途径，不仅可以用于基因诊断，还可以用于储存患有罕见神经遗传性疾病的患者的样本。 NeuroReport 24:161-166 (C) 2013 Wolters Kluwer Health 垂直条 Lippincott Williams & Wilkins。神经报告 2013, 24: 161-166
Many major inherited neurological disorders are characterized by early childhood onset, high lethality rate, and the absence of effective treatments. A poor understanding of the underlying mechanisms of such disorders is partly because of the scarcity of patient-specific samples. In this study, we cultured the urine sediments of such patients, aiming to explore the capacity of urine cell cultures to obtain specimens from patients suffering from rare inherited neurological diseases. We collected fresh urine from a variety of neurogenetic patients; cultured the specimens; generated different urine cell lines; and classified these cell lines through morphology, reverse transcription-PCR, and immunofluorescence. We then used these cell lines to detect the affected genes in spinal muscular atrophy and Duchenne muscular dystrophy. We successfully established cell lines from patients with spinal muscular atrophy, Duchenne muscular dystrophy, paroxysmal kinesigenic dyskinesia, and Wilson's disease. All established cell lines consisted of urinary tract epithelial cells and podocytes, and had the same gene defects as the blood specimens. Urine cell culture is thus a new, simple, and noninvasive avenue for getting patient-specific samples not only for genetic diagnosis, but also for storing the samples from patients with rare neurological inherited diseases. NeuroReport 24:161-166 (C) 2013 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins. NeuroReport 2013, 24: 161-166