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.
What do “brain” diseases have to do with congenital heart disease and metabolic disorders?
- A Mitochondrial Etiology of Neuropsychiatric Disorders, JAMA Psychiatry, doi:10.1001/jamapsychiatry.2017.0397, June 14, 2017.
- DES studies on ADHD, autism, Down’s Syndrome, Immune-related Disease.
- DES studies on gender identity and psychological health.
- Image credit Anibal Gazzolo.