BackgroundAbnormalities in ataxin‐2 associated with spinocerebellar ataxia type 2 (SCA2) may lead to widespread disruptions in the proteome. This study was performed to identify dysregulated proteome in SCA2 and to explore its clinical‐radiological correlations.MethodsCerebrospinal fluid (CSF) samples from 21 genetically confirmed SCA2 were subjected to shotgun proteome analysis using mass spectrometry (MS) and tandem mass tag (TMT)‐based multiplexing. Proteins with at least 1.5‐fold change in abundance were identified. Their relative abundance was measured using parallel reaction monitoring (PRM) and correlated against disease‐related factors.ResultsEleven proteins were significantly upregulated in SCA2. They belonged to the family of cell adhesion molecules and granins. Their fold changes showed significant clinical, genetic, and radiological correlations.ConclusionsSignificant dysregulation of CSF proteome is seen in SCA2. The dysregulated protein may have potential use in clinical evaluation of patients with SCA2. © 2024 International Parkinson and Movement Disorder Society.

中文翻译：

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2 型脊髓小脑共济失调脑脊液蛋白质组失调及其临床意义


背景与 2 型脊髓小脑共济失调 (SCA2) 相关的 ataxin-2 异常可能导致蛋白质组广泛破坏。本研究旨在识别 SCA2 中失调的蛋白质组并探索其临床放射学相关性。方法使用质谱 (MS) 和串联质量标签 (TMT) 对来自 21 个基因证实的 SCA2 的脑脊液 (CSF) 样本进行鸟枪式蛋白质组分析。基于复用。鉴定出丰度变化至少 1.5 倍的蛋白质。使用平行反应监测 (PRM) 测量它们的相对丰度，并与疾病相关因素相关。结果 SCA2 中 11 种蛋白质显着上调。它们属于细胞粘附分子和颗粒蛋白家族。它们的倍数变化显示出显着的临床、遗传和放射学相关性。结论在 SCA2 中观察到 CSF 蛋白质组的显着失调。这种失调的蛋白可能在 SCA2 患者的临床评估中具有潜在用途。 © 2024 国际帕金森和运动障碍协会。