Despite newly available treatments for spinal muscular atrophy (SMA), novel circulating biomarkers are still critically necessary to track SMA progression and therapeutic response. To identify potential biomarkers, we performed whole-blood RNA sequencing analysis in SMA type 1 subjects under 1 year old and age-matched healthy controls. Our analysis revealed the Heat Shock Protein Family A Member 7 (HSPA7)/heat shock 70kDa protein 7 (HSP70B) as a novel candidate biomarker to track SMA progression early in life. Changes in circulating HSP70B protein levels were associated with changes in circulating neurofilament levels in SMA newborns and infants. Future studies will determine whether HSP70B levels respond to molecular therapies.

中文翻译：

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脊髓性肌萎缩症婴儿全身 HSP70B 水平升高

尽管有新的脊髓性肌萎缩症 (SMA) 治疗方法可用，但新的循环生物标志物对于追踪 SMA 进展和治疗反应仍然至关重要。为了识别潜在的生物标志物，我们对 1 岁以下的 SMA 1 型受试者和年龄匹配的健康对照进行了全血 RNA 测序分析。我们的分析揭示了热休克蛋白家族 A 成员 7 (HSPA7) /热休克 70kDa 蛋白 7 (HSP70B) 作为一种新的候选生物标志物，可在生命早期跟踪 SMA 的进展。循环 HSP70B 蛋白水平的变化与 SMA 新生儿和婴儿循环神经丝水平的变化有关。未来的研究将确定 HSP70B 水平是否对分子疗法有反应。