Jasenovec Tomas, Radosinska Dominika, Belica Ivan, Raskova Barbara, Puzserova Angelika, Vrbjar Norbert, Radosinska Jana
Institute of Physiology, Faculty of Medicine, Comenius University in Bratislava, Sasinkova 2, 811 08 Bratislava, Slovakia.
Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University in Bratislava, Sasinkova 4, 811 08 Bratislava, Slovakia.
Biomedicines. 2024 Nov 15;12(11):2619. doi: 10.3390/biomedicines12112619.
Multiple research teams have documented various abnormalities in erythrocyte properties in children with autism spectrum disorder (ASD) compared with neurotypical individuals. Reduced erythrocyte deformability, a crucial factor for microcirculation and oxygen delivery, may affect brain function. Other key factors like nitric oxide (NO) and Na,K-ATPase-regulated cation transport also play roles in both erythrocyte deformability and ASD, suggesting a possible relationship between erythrocyte parameters and autism severity. Thus, this study aims to describe these associations, exploring erythrocyte properties as potential biomarkers in ASD.
A total of 179 ASD children were enrolled in this study. Diagnosis was confirmed by the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and Autism Diagnostic Interview-Revised. The Vineland Adaptive Behavior Scales, Third Edition (VABS-3), was used to assess adaptive behavior. RBC deformability was measured using a filtration technique, while NO production by RBCs was assessed via DAF-2DA fluorescence. Na,K-ATPase kinetics and RBC osmotic resistance were evaluated spectrophotometrically.
Children with more severe ASD symptoms had more impaired deformability and osmotic resistance than children with mild symptoms. Higher RBC NO production was linked to better scores in some VABS-3 subdomains, and in the social affect domain of ADOS-2. Higher affinity of Na,K-ATPase for sodium negatively correlated with the occurrence of repetitive and restricted behavior-one of the core ASD symptoms.
This study identified potential links between ASD severity and RBC properties. While erythrocyte quality can influence ASD symptomatology, the observed relationships-such as those involving RBC deformability, NO production, Na,K-ATPase kinetics, and osmotic resistance-were not strong or consistent enough to be considered reliable diagnostic or prognostic biomarkers.
多个研究团队已记录了自闭症谱系障碍(ASD)儿童与神经典型个体相比红细胞特性存在的各种异常。红细胞变形性降低是微循环和氧气输送的关键因素,可能会影响脑功能。其他关键因素如一氧化氮(NO)和钠钾ATP酶调节的阳离子转运在红细胞变形性和ASD中也起作用,这表明红细胞参数与自闭症严重程度之间可能存在关联。因此,本研究旨在描述这些关联,探索红细胞特性作为ASD潜在生物标志物的可能性。
本研究共纳入179名ASD儿童。通过《自闭症诊断观察量表第二版》(ADOS - 2)和《自闭症诊断访谈修订版》确诊。使用《文兰适应行为量表第三版》(VABS - 3)评估适应行为。采用过滤技术测量红细胞变形性,通过DAF - 2DA荧光评估红细胞产生NO的情况。用分光光度法评估钠钾ATP酶动力学和红细胞渗透抵抗力。
与症状较轻的儿童相比,ASD症状较严重的儿童红细胞变形性和渗透抵抗力受损更严重。较高的红细胞NO生成量与VABS - 3某些子领域以及ADOS - 2社交情感领域的较好得分相关。钠钾ATP酶对钠的较高亲和力与重复和受限行为(ASD核心症状之一)的发生呈负相关。
本研究确定了ASD严重程度与红细胞特性之间的潜在联系。虽然红细胞质量可影响ASD症状,但观察到的关系,如涉及红细胞变形性、NO生成、钠钾ATP酶动力学和渗透抵抗力的关系,并不足够强或一致,不足以被视为可靠的诊断或预后生物标志物。