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ORIGINAL RESEARCH article

Front. Neurol.
Sec. Neuromuscular Disorders and Peripheral Neuropathies
Volume 15 - 2024 | doi: 10.3389/fneur.2024.1382410

Association among Biomarkers, Phenotypes, and Motor Milestones in Chinese Patients with 5q Spinal Muscular Atrophy Types 1-3

Provisionally accepted
Shijia Ouyang Shijia Ouyang 1*Xiaoyin Peng Xiaoyin Peng 2*Wenchen Huang Wenchen Huang 1*Jinli Bai Jinli Bai 1*Hong Wang Hong Wang 1*Yuwei Jin Yuwei Jin 1*Hui Jiao Hui Jiao 2*Maoti Wei Maoti Wei 3Ge Xiushan Ge Xiushan 2Fang Song Fang Song 1*Yujin Qu Yujin Qu 1*
  • 1 Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China
  • 2 Department of Neurology, Children's Hospital of Capital Institute of Pediatrics, Beijing, China
  • 3 TEDA International Cardiovascular Hospital, Tianjin, China

The final, formatted version of the article will be published soon.

    Biomarkers can be used to assess the severity of spinal muscular atrophy (5q SMA; SMA). Despite their potential, the relationship between biomarkers and clinical outcomes in SMA remains underexplored. This study aimed to assess the association among biomarkers, phenotypes, and motor milestones in Chinese patients diagnosed with SMA. We collected retrospective clinical and followup data of disease-modifying therapy (DMT)-naïve patients with SMA at our center from 2019 to 2021.Four biomarkers were included: survival motor neuron 2 (SMN2) copies, neuronal apoptosis inhibitory protein (NAIP) copies, full-length SMN2 (fl-SMN2), and F-actin bundling protein plastin 3 (PLS3) transcript levels. Data were analyzed and stratified according to SMA subtype. Of the 123 patients, 30 were diagnosed with Type 1 (24.3%), 56 with Type 2 (45.5%), and 37 with Type 3 (30.1%). The mortality rate for Type 1 was 50%, with median survival times of 2 and 8 months for types 1a and 1b, respectively. All four biomarkers were correlated with disease severity. Notably, fl-SMN2 transcript levels increased with SMN2 copies and were higher in Type 2b than those in Type 2a (P = 0.028).Motor milestone deterioration was correlated with SMN2 copies, NAIP copies, and fl-SMN2 levels, while PLS3 levels were correlated with standing and walking function. Our findings suggest that SMN2 copies contribute to survival and that fl-SMN2 may serve as a valuable biomarker for phenotypic variability in SMA Type 2 subtypes. These insights can guide future research and clinical management of SMA.

    Keywords: spinal muscular atrophy, biomarkers, severity, motor milestones, Survival

    Received: 15 Feb 2024; Accepted: 25 Jul 2024.

    Copyright: © 2024 Ouyang, Peng, Huang, Bai, Wang, Jin, Jiao, Wei, Xiushan, Song and Qu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Shijia Ouyang, Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China
    Xiaoyin Peng, Department of Neurology, Children's Hospital of Capital Institute of Pediatrics, Beijing, 100005, China
    Wenchen Huang, Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China
    Jinli Bai, Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China
    Hong Wang, Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China
    Yuwei Jin, Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China
    Hui Jiao, Department of Neurology, Children's Hospital of Capital Institute of Pediatrics, Beijing, 100005, China
    Fang Song, Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China
    Yujin Qu, Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.