MitoCanada partners with MITO2i fund mitochondrial research that could improve quality of life for those with autism spectrum disorder
Autism spectrum disorder (ASD) occurs in 10-20 % of mitochondrial disorders.
ASD is a neurodevelopmentaldisorder that can cause significant social, communication and behavioural challenges. Those living with ASD have difficulty with social communication/ interactions and may engage in repetitive patterns of behaviour.
ASD occurs in approximately 10-20 % of people affected by mitochondrial disorders. Genetic mutations that are important in neuro-developmental genes can explain approximately20 % of ASDs. Metabolic factors may also impact up to 10-20 % of children. This includes abnormalities in the mitochondria and carnitine (Cn)-dependent system.
L-Cn is a safe vitamin that is important in generating energy for the brain, protecting it from excessive toxic free radicals, and helping neurotransmission.
It is often used to treat mitochondrial disorders. The brain has 3 Cn transporters. Dysfunction of one is associated with ADHD and ID. Certain children with ASD have had a positive response to Cn, particularly those with defects in the Cn pathway.
The earlier we can identify and treat children at risk, the greater the effect on brain development and quality of life.
Dr. Tein’s research aims to identify genetic risk variants in the Cn transporter and Cn biosynthesis gene families. It also plans to identify clinical risk factors leading to Cn deficiency in a group of children with ASD.
The approach will select children at risk for carnitine deficiency for potential future clinical trials in order toselect those who may have a positive response to Cn. The hope is that this will lead to improved social communication, attention, and learning for a subgroup children with ASD.
Dr. Ingrid Tein | Director, Neurometabolic Clinic, Hospital for Sick Children
Identification of Candidate Genetic Susceptibility Variants in the Carnitine Transporter and Carnitine Biosynthesis Gene Families in Autism Spectrum Disorder: A Novel Precision Medicine Target
