Maretina Marianna, Koroleva Valeria, Shchugareva Lyudmila, Glotov Andrey, Kiselev Anton
D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint-Petersburg, Russia.
Municipal Hospital for Children No. 1, 198205 Saint-Petersburg, Russia.
Biomedicines. 2024 Oct 30;12(11):2486. doi: 10.3390/biomedicines12112486.
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder that currently has an approved treatment for all forms of the disease. Previously, biomarkers were primarily used for diagnostic purposes, such as detecting the presence of the disease or determining a specific clinical type of SMA. Currently, with the availability of therapy, biomarkers have become more valuable due to their potential for prognostic, predictive, and pharmacodynamic applications. This review describes the most promising physiological, functional, imaging and molecular biomarkers for SMA, derived from different patients' tissues. The review summarizes information about classical biomarkers that are already used in clinical practice as well as fresh findings on promising biomarkers that have been recently disclosed. It highlights the usefulness, limitations, and strengths of each potential biomarker, indicating the purposes for which each is best suited and when combining them may be most beneficial.
脊髓性肌萎缩症（SMA）是一种严重的神经肌肉疾病，目前针对该疾病的所有形式均有已获批的治疗方法。以前，生物标志物主要用于诊断目的，例如检测疾病的存在或确定SMA的特定临床类型。目前，随着治疗方法的出现，生物标志物因其在预后、预测和药效学应用方面的潜力而变得更有价值。本综述描述了从不同患者组织中获得的、最有前景的SMA生理、功能、影像和分子生物标志物。该综述总结了已在临床实践中使用的经典生物标志物的信息，以及最近披露的有前景的生物标志物的新发现。它强调了每种潜在生物标志物的有用性、局限性和优势，指出了每种生物标志物最适合的用途以及何时将它们结合起来可能最有益。
