is recognized for its role in modulating blood-brain barrier (BBB) permeability , which may have significant implications for the pathogenesis and progression of neurodegenerative disorders. However, evidence is contrasting. This study explores the impact of genotypes on BBB integrity among 230 participants experiencing cognitive impairment, encompassing cases of Alzheimer's disease (AD) as well as various non-AD neurodegenerative conditions. To assess BBB integrity, we utilized cerebrospinal fluid (CSF)/serum albumin ratios and CSF/serum kappa and lambda free light chains (FLCs) as indirect markers. Our findings show a dose-dependent increase in BBB permeability in individuals carrying the ε4 allele, marked by elevated CSF/serum albumin and FLCs ratios, with this trend being especially pronounced in AD patients. These results highlight the association of with BBB permeability, providing valuable insights into the pathophysiology of neurodegenerative diseases.

中文翻译：

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APOE 基因型与神经退行性疾病血脑屏障通透性的关联


因其在调节血脑屏障 (BBB) 通透性方面的作用而得到认可，这可能对神经退行性疾病的发病机制和进展具有重要意义。然而，证据却是相反的。这项研究探讨了 230 名患有认知障碍的参与者的基因型对 BBB 完整性的影响，其中包括阿尔茨海默病 (AD) 以及各种非 AD 神经退行性疾病病例。为了评估 BBB 完整性，我们利用脑脊液 (CSF)/血清白蛋白比率以及 CSF/血清 κ 和 lambda 游离轻链 (FLC) 作为间接标记。我们的研究结果表明，携带ε4等位基因的个体的血脑屏障通透性呈剂量依赖性增加，其特征是脑脊液/血清白蛋白和FLC比率升高，这种趋势在AD患者中尤其明显。这些结果强调了与 BBB 通透性的关联，为神经退行性疾病的病理生理学提供了宝贵的见解。