#Autism’s Link to Mitochondrial DNA Mutations Grows | GEN

Originally posted 2016-11-08 14:26:56.


In recent years, ongoing research has continually shown that an increased number of autism spectrum disorder (ASD) cases are inextricably linked to greater numbers of harmful mutations within mitochondrial DNA (mtDNA) than other unaffected members of their immediate family—yet, the biological basis for this relationship has remained unclear. Now, investigators at Cornell University in Ithaca have performed an extensive genomic study to evaluate genetic variations in mtDNA among ASD patients, including the mixture of different mtDNA molecules within the same individual—a genetic scenario called heteroplasmy.

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