Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots.
Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots.
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DOI：
10.3390/genes12101621
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发表时间：
2021-10-14
期刊：
影响因子：
3.5
通讯作者：
Awano H
中科院分区：
文献类型：
--
作者：
Wijaya YOS;Nishio H;Niba ETE;Okamoto K;Shintaku H;Takeshima Y;Saito T;Shinohara M;Awano H
脊髓性肌萎缩症（SMA）是一种下运动神经元疾病，一度被认为是无法治愈的。主要症状是肌肉无力和肌肉萎缩。超过90%的SMA病例是由运动神经元存活基因1（SMN1）的纯合缺失引起的。新兴的治疗方法，如SMN2的剪接调节和SMN基因替代疗法，已经改善了患者的运动和运动功能。然而，通过SMN1检测确诊的病例往往被延迟，这表明存在诊断延迟或未确诊的病例。为了使患者能够获得正确的治疗，SMA筛查系统至关重要。即便如此，目前使用干血斑的新生儿筛查系统仍然是侵入性的和繁琐的。在这里，我们开发了一种完全非侵入性的筛选系统，使用干唾液斑点（DSS）作为替代DNA来源来检测SMN1缺失。在这项研究中，测试了60名DSS（40名SMA患者和20名对照）。改良竞争性寡核苷酸引物聚合酶链反应和熔解峰分析的组合清楚地区分了含和不含SMN1的DSS样品。总之，这些结果表明，我们的DSS系统适用于SMA患者检测在真实的世界。
Spinal muscular atrophy (SMA) is a lower motor neuron disease, once considered incurable. The main symptoms are muscle weakness and muscular atrophy. More than 90% of cases of SMA are caused by homozygous deletion of survival motor neuron 1 (SMN1). Emerging treatments, such as splicing modulation of SMN2 and SMN gene replacement therapy, have improved the prognoses and motor functions of patients. However, confirmed diagnosis by SMN1 testing is often delayed, suggesting the presence of diagnosis-delayed or undiagnosed cases. To enable patients to access the right treatments, a screening system for SMA is essential. Even so, the current newborn screening system using dried blood spots is still invasive and cumbersome. Here, we developed a completely non-invasive screening system using dried saliva spots (DSS) as an alternative DNA source to detect SMN1 deletion. In this study, 60 DSS (40 SMA patients and 20 controls) were tested. The combination of modified competitive oligonucleotide priming-polymerase chain reaction and melting peak analysis clearly distinguished DSS samples with and without SMN1. In conclusion, these results suggest that our system with DSS is applicable to SMA patient detection in the real world.
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DOI：
10.3791/51697
发表时间：
2014-08-27
期刊：
Journal of visualized experiments : JoVE
影响因子：
--
作者：
Goode MR;Cheong SY;Li N;Ray WC;Bartlett CW
通讯作者：
Bartlett CW
影响因子：
64.5
作者：
LEFEBVRE, S;BURGLEN, L;MELKI, J
通讯作者：
MELKI, J
影响因子：
3.5
作者：
Kucera KS;Taylor JL;Robles VR;Clinard K;Migliore B;Boyea BL;Okoniewski KC;Duparc M;Rehder CW;Shone SM;Fan Z;Raspa M;Peay HL;Wheeler AC;Powell CM;Bailey DB Jr;Gehtland LM
通讯作者：
Gehtland LM
影响因子：
15.1
作者：
Kariyawasam DST;D'Silva AM;Vetsch J;Wakefield CE;Wiley V;Farrar MA
通讯作者：
Farrar MA
影响因子：
3.5
作者：
Kimizu T;Ida S;Okamoto K;Awano H;Niba ETE;Wijaya YOS;Okazaki S;Shimomura H;Lee T;Tominaga K;Nabatame S;Saito T;Hamazaki T;Sakai N;Saito K;Shintaku H;Nozu K;Takeshima Y;Iijima K;Nishio H;Shinohara M
通讯作者：
Shinohara M