IL-6, homocysteine, and autism spectrum phenotypes: an investigation among adults with autism spectrum disorder and their first-degree relatives

Abstract

Background The importance of recognizing different kinds of autism spectrum presentations among adults, including subthreshold forms and the broad autism phenotype (BAP), has been increasingly highlighted in recent studies. Meanwhile, the possible involvement of immune system deregulation and altered methylation/trans-sulfuration processes in autism spectrum disorder (ASD) is gaining growing attention, but studies in this field are mainly focused on children. In this framework, the aim of this study was to compare plasmatic concentrations of IL-6 and homocysteine (HCY) among adults with ASD, their first-degree relatives, and healthy controls (CTLs), investigating also possible correlations with specific autism symptoms. Methods Plasma concentrations of IL-6 and HCY were measured in a group of adult subjects with ASD, their first-degree relatives (BAP group), and healthy controls (CTL). All participants were also evaluated with psychometric instruments. Results IL-6 and HCY concentrations were significantly higher in the ASD group than in CTLs, while BAP subjects reported intermediate results. Significant correlations were reported between biochemical parameters and psychometric scales, particularly for the dimension of ruminative thinking. Conclusions These findings support the hypothesis of a key involvement of HCY-related metabolism and immune system alteration in autism spectrum pathophysiology. HCY and IL-6 seem to show different associations with specific autism dimensions.

Exploratory focused pharmacogenetic testing reveals novel markers associated with risperidone pharmacokinetics in Saudi children with autism

“…Consistent with this, a growing body of evidence suggests that the severity of autistic symptoms as a whole may be associated with increased levels of homocysteine associated with aggravation of dopamine deficiency ( Carpita et al, 2023 ; Dangmann, 2023 ; Majhi et al, 2023 ). According to our data, rs1801133 of MTHFR , despite being less prevalent in our sample (12.9%) than in another cohort of Saudi children with ASD (36%) ( Arab and Elhawary, 2019 ), was associated with a significant decrease in 9-OH-RIS and total active moiety levels, yet no evident impact was observed on RIS plasma exposure.…”

Unlocking the Secrets: Exploring the Biochemical Correlates of Suicidal Thoughts and Behaviors in Adults with Autism Spectrum Conditions

“…Comparison of socio-demographic variables, as well as other clinical and psychopathological features of the sample, are described elsewhere [ 125 , 126 , 127 ]. Considering MOODS-SR scores, the ANOVA analysis showed significant differences among groups on MOODS Total (F = 33.62; dF = 2; p < 0.001) as well as on MOODS manic component (F = 18.13; dF = 2; p < 0.001), depressive component (F = 35.39; dF = 2; p < 0.001), and Rhythmicity (F = 12.74; dF = 2; p < 0.001).…”