Decreased levels of alpha synuclein in families with autism spectrum disorder and relationship between the disease severity

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorders that begin in early childhood. Mutations in a-synuclein (SNCA) gene have been shown to result in the accumulation of a-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 a-synuclein levels. It was determined that a-synuclein serum levels decreased in the autistic patients. Similarly, it was found that SNCA gene expression and serum a-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 a-synuclein. The relationship between ASD severity and a-synuclein level needs to be confirmed in larger-scale studies.

Automated summary

This study compares the gene expression and serum α-synuclein levels in autistic patients, their healthy siblings, and healthy controls. It was found that serum α-synuclein levels were significantly decreased in autistic patients and their mothers, and there was a significant negative correlation between SNCA gene expression and protein levels in the patients aged 6-8.