Erciyes University Genome and Stem Cell Center (GENKOK), Erciyes University Medical Faculty Department of Medical Biology, 38039 Kayseri, Turkey.
Erciyes University Genome and Stem Cell Center (GENKOK), Erciyes University Medical Faculty Department of Medical Biology, 38039 Kayseri, Turkey; Erciyes University Medical Faculty Department of Medical Biology, Kayseri, Turkey.
Brain Res. 2023 Sep 1;1814:148410. doi: 10.1016/j.brainres.2023.148410. Epub 2023 May 25.
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorders that begin in early childhood. Mutations in α-synuclein (SNCA) gene have been shown to result in the accumulation of α-synuclein, which occurs in many neurodegenerative diseases. Our aim was to determine the changes in the expression profile and protein level of this gene by comparing the autistic children with their healthy siblings, their mothers and healthy controls in order to elucidate the possible contribution of the SNCA gene to the etiology of ASD. 50 autistic patients, their mothers, siblings and 25 healthy controls and their mothers were enrolled to determine SNCA gene expression and serum α-synuclein levels. It was determined that α-synuclein serum levels decreased in the autistic patients. Similarly, it was found that SNCA gene expression and serum α-synuclein levels were significantly decreased in the mothers of the patients. Significant negative correlation was observed between the SNCA gene and protein expression amounts in the 6-8 age of the patients. This family-based study is the first in the literature, with both gene expression and serum levels of α-synuclein. The relationship between ASD severity and α-synuclein level needs to be confirmed in larger-scale studies.
自闭症谱系障碍 (ASD) 是一种异质性的神经发育障碍，始于儿童早期。α-突触核蛋白 (SNCA) 基因突变导致 α-突触核蛋白的积累，这种情况发生在许多神经退行性疾病中。我们的目的是通过比较自闭症儿童与其健康兄弟姐妹、母亲和健康对照组，来确定该基因的表达谱和蛋白水平的变化，以阐明 SNCA 基因可能对 ASD 的发病机制的贡献。本研究共纳入了 50 名自闭症患者、他们的母亲、兄弟姐妹和 25 名健康对照者及其母亲，以确定 SNCA 基因的表达和血清 α-突触核蛋白水平。结果发现，自闭症患者的血清 α-突触核蛋白水平降低。同样，患者母亲的 SNCA 基因表达和血清 α-突触核蛋白水平也显著降低。在患者 6-8 岁时，观察到 SNCA 基因与蛋白表达量之间存在显著的负相关。这是文献中首次进行的基于家庭的研究，同时检测了 α-突触核蛋白的基因表达和血清水平。需要在更大规模的研究中进一步证实 ASD 严重程度与 α-突触核蛋白水平之间的关系。
