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September 2017

A Mitochondrial Etiology of Neuropsychiatric Disorders

Author Affiliations
  • 1Center for Mitochondrial and Epigenomic Medicine, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
  • 2Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia
JAMA Psychiatry. 2017;74(9):863-864. doi:10.1001/jamapsychiatry.2017.0397

Enormous resources have been invested in the analysis of neuropsychiatric disorders using powerful genomics techniques, including genome-wide association studies (GWAS), whole-exome sequencing (WES), and whole-genome sequencing, to search for nuclear DNA (nDNA) gene variants associated with these disorders. Yet, no coherent pathophysiological etiology for psychiatric disorders has emerged. For example, after analysis of thousands of autism cases by GWAS and WES, numerous copy number variants and loss-of-function mutations have been identified, but no single variant accounts for a significant proportion of cases. Moreover, the genes that have been found to harbor loss-of-function mutations in patients with autism overlap with those associated with congenital heart disease and metabolic disorders.1 What do “brain” diseases have to do with congenital heart disease and metabolic disorders?