Mitochondrial Copy Number as a Biomarker for Autism?

Abstract

* Abbreviations: AS — : autism ASD — : autism spectrum disorder mt — : mitochondrial, mtCN, mitochondrial copy number mtDNA — : mitochondrial DNA Autism (AS) and autism spectrum disorders (ASD) represent a group of neurodevelopmental disorders of acute clinical and pathomechanistic heterogeneity. The serious impact of AS/ASD in families1,2 and the alarming growth of AS/ASD in the developed world3,4 have highlighted the pressing need both to develop new early diagnostic tools and to understand causality as a means of developing new therapeutic paradigms. In this issue of Pediatrics , Wong et al5 studied mitochondrial (mt) copy number (mtCN) and the incidence of mt deletions in parents and children with autism (refs 6–8 and review in ref 9). They report an increased mtCN in patients with AS compared with matched control children, as well as an increase in the number of mt deletions, although there was no evidence of excessive mt gene loss between these 2 groups. In addition, they found that fathers of AS children had a higher incidence of mitochondrial DNA (mtDNA) deletions (but not mtCN) compared with fathers of control … Address correspondence to Nicholas Katsanis, PhD, 300 N Duke St, Suite 47–101, Durham, NC 27701. E-mail: katsanis{at}cellbio.duke.edu