Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots
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 (<i>SMN1</i>). Emerging treatments, such as spl...
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MDPI AG
2021-10-01
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| Online Access: | https://www.mdpi.com/2073-4425/12/10/1621 |
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| author | Yogik Onky Silvana Wijaya Hisahide Nishio Emma Tabe Eko Niba Kentaro Okamoto Haruo Shintaku Yasuhiro Takeshima Toshio Saito Masakazu Shinohara Hiroyuki Awano |
| author_facet | Yogik Onky Silvana Wijaya Hisahide Nishio Emma Tabe Eko Niba Kentaro Okamoto Haruo Shintaku Yasuhiro Takeshima Toshio Saito Masakazu Shinohara Hiroyuki Awano |
| author_sort | Yogik Onky Silvana Wijaya |
| collection | DOAJ |
| description | 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 (<i>SMN1</i>). Emerging treatments, such as splicing modulation of <i>SMN2</i> and <i>SMN</i> gene replacement therapy, have improved the prognoses and motor functions of patients. However, confirmed diagnosis by <i>SMN1</i> 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 <i>SMN1</i> 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 <i>SMN1</i>. In conclusion, these results suggest that our system with DSS is applicable to SMA patient detection in the real world. |
| first_indexed | 2024-03-10T06:32:37Z |
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| id | doaj.art-4d370cf9dc354d0db7dcbded207cc29b |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T06:32:37Z |
| publishDate | 2021-10-01 |
| publisher | MDPI AG |
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| series | Genes |
| spelling | doaj.art-4d370cf9dc354d0db7dcbded207cc29b2023-11-22T18:22:52ZengMDPI AGGenes2073-44252021-10-011210162110.3390/genes12101621Detection of Spinal Muscular Atrophy Patients Using Dried Saliva SpotsYogik Onky Silvana Wijaya0Hisahide Nishio1Emma Tabe Eko Niba2Kentaro Okamoto3Haruo Shintaku4Yasuhiro Takeshima5Toshio Saito6Masakazu Shinohara7Hiroyuki Awano8Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, JapanDepartment of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, JapanDepartment of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, JapanDepartment of Pediatrics, Ehime Prefectural Imabari Hospital, 4-5-5 Ishiicho, Imabari 794-0006, Ehime, JapanDepartment of Pediatrics, Osaka City University Graduate School of Medicine, 1-4-3 Asahi-Machi, Abeno-ku, Osaka 545-8585, Osaka, JapanDepartment of Pediatrics, Hyogo College of Medicine, 1-1 Mukogawacho, Nishinomiya 663-8501, Hyogo, JapanDepartment of Neurology, National Hospital Organization Osaka Toneyama Medical Center, 5-1-1 Toneyama, Toyonaka 560-8552, Osaka, JapanDepartment of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, JapanDepartment of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, JapanSpinal 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 (<i>SMN1</i>). Emerging treatments, such as splicing modulation of <i>SMN2</i> and <i>SMN</i> gene replacement therapy, have improved the prognoses and motor functions of patients. However, confirmed diagnosis by <i>SMN1</i> 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 <i>SMN1</i> 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 <i>SMN1</i>. In conclusion, these results suggest that our system with DSS is applicable to SMA patient detection in the real world.https://www.mdpi.com/2073-4425/12/10/1621dried saliva spotspinal muscular atrophy<i>SMN1</i>modified competitive oligonucleotide priming-polymerase chain reactionmelting peak analysisnested PCR |
| spellingShingle | Yogik Onky Silvana Wijaya Hisahide Nishio Emma Tabe Eko Niba Kentaro Okamoto Haruo Shintaku Yasuhiro Takeshima Toshio Saito Masakazu Shinohara Hiroyuki Awano Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots Genes dried saliva spot spinal muscular atrophy <i>SMN1</i> modified competitive oligonucleotide priming-polymerase chain reaction melting peak analysis nested PCR |
| title | Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots |
| title_full | Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots |
| title_fullStr | Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots |
| title_full_unstemmed | Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots |
| title_short | Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots |
| title_sort | detection of spinal muscular atrophy patients using dried saliva spots |
| topic | dried saliva spot spinal muscular atrophy <i>SMN1</i> modified competitive oligonucleotide priming-polymerase chain reaction melting peak analysis nested PCR |
| url | https://www.mdpi.com/2073-4425/12/10/1621 |
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