A mitochondrial bioenergetic hypothesis for autism spectrum disorder (570.3)

• DOI: 10.1096/fasebj.28.1_supplement.570.3
• Publication Date: 2021-06-16T10:00:02Z
• Authors: Dimitra Chalkia; Olga Derbeneva; Maria Lvova; Anita Lakatos; Jeremy Leipzig; Dexter Hadley; Hakon Hakonarson; Douglas Wallace
• Keywords: Haplogroup; Heritability of autism

We are testing the hypothesis that a significant proportion of risk for developing Autism Spectrum Disorder (ASD) is result inheriting partial defects in genes mitochondrial bioenergetics. To test our hypothesis, first we determined if ancient human mtDNA variation associated with ASD risk. accomplish this, used two independently generated and genotyped cohorts, Genetic Resource Exchange (AGRE) CHOP Case‐Control (ACC). These pre‐existing SNP data were by Illumina chip analysis. deduced haplogroups all samples utilized cases controls harbored European haplogroups. Generalized linear modeling analysis AGRE cohort suggests J lineage T2 haplogroup factors (J lineage: OR = 2.22, CI=1.21‐4.05, p=0.0094; haplogroup: OR= 1.79, CI= 1.26‐2.55, p=0.0012). Congruently, ACC found strongly represents factor (OR=1.45, CI=1.04‐2.03, p=0.0284). demonstrate modified thus supporting bioenergetic ASD. Grant Funding Source : Supported Simons Foundation Research Initiative National Institutes Health