Next Article in Journal
Association of CYP26C1 Promoter Hypomethylation with Small Vessel Occlusion in Korean Subjects
Next Article in Special Issue
NAD+ Metabolism and Diseases with Motor Dysfunction
Previous Article in Journal
Roles of Glutathione in Mediating Abscisic Acid Signaling and Its Regulation of Seed Dormancy and Drought Tolerance
Article

Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots

1
Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, Japan
2
Faculty of Rehabilitation, Kobe Gakuin University, 518 Arise, Ikawadani-cho, Nishi-ku, Kobe 651-2180, Hyogo, Japan
3
Department of Pediatrics, Ehime Prefectural Imabari Hospital, 4-5-5 Ishiicho, Imabari 794-0006, Ehime, Japan
4
Department of Pediatrics, Osaka City University Graduate School of Medicine, 1-4-3 Asahi-Machi, Abeno-ku, Osaka 545-8585, Osaka, Japan
5
Department of Pediatrics, Hyogo College of Medicine, 1-1 Mukogawacho, Nishinomiya 663-8501, Hyogo, Japan
6
Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, 5-1-1 Toneyama, Toyonaka 560-8552, Osaka, Japan
7
Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, Japan
*
Author to whom correspondence should be addressed.
Academic Editor: Christopher Grunseich
Genes 2021, 12(10), 1621; https://doi.org/10.3390/genes12101621
Received: 27 September 2021 / Revised: 11 October 2021 / Accepted: 13 October 2021 / Published: 14 October 2021
(This article belongs to the Special Issue Genetics of Motor Neuron Diseases)
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. View Full-Text
Keywords: dried saliva spot; spinal muscular atrophy; SMN1; modified competitive oligonucleotide priming-polymerase chain reaction; melting peak analysis; nested PCR dried saliva spot; spinal muscular atrophy; SMN1; modified competitive oligonucleotide priming-polymerase chain reaction; melting peak analysis; nested PCR
Show Figures

Figure 1

MDPI and ACS Style

Wijaya, Y.O.S.; Nishio, H.; Niba, E.T.E.; Okamoto, K.; Shintaku, H.; Takeshima, Y.; Saito, T.; Shinohara, M.; Awano, H. Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots. Genes 2021, 12, 1621. https://doi.org/10.3390/genes12101621

AMA Style

Wijaya YOS, Nishio H, Niba ETE, Okamoto K, Shintaku H, Takeshima Y, Saito T, Shinohara M, Awano H. Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots. Genes. 2021; 12(10):1621. https://doi.org/10.3390/genes12101621

Chicago/Turabian Style

Wijaya, Yogik O.S., Hisahide Nishio, Emma T.E. Niba, Kentaro Okamoto, Haruo Shintaku, Yasuhiro Takeshima, Toshio Saito, Masakazu Shinohara, and Hiroyuki Awano. 2021. "Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots" Genes 12, no. 10: 1621. https://doi.org/10.3390/genes12101621

Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop