Biological insights from 108 schizophrenia-associated genetic loci

https://www.nature.com/articles/nature13595?utm_campaign=morning_rounds&utm_medium=email&_hsmi=270590419&_hsenc=p2ANqtz--c2KiyMDMgw5A-PfESJo2Fai6fN8xj120SlAEDAjDWiv52GR4fNtc7__5V-n1CxDoH-Evck8b2t5lp9IKwymqfqX7jew&utm_content=270590417&utm_source=hs_email A genetic deletion in schizophrenia is linked to problems in mitochondria It’s no secret that schizophrenia is a heritable disorder, but its complex, multiple-gene nature has made it challenging to understand. More than a decade ago when she was a grad student, Jennifer Mulle was studying a region of chromosome 3, where, if a person has just one copy of DNA, their susceptibility to schizophrenia and other neurodevelopmental and psychiatric disorders soars. The rare 3q29 deletion is tied to at least a 40-fold increase in the risk of developing schizophrenia. That makes it the strongest identified single genetic risk factor for the polygenic disease. Now at Rutgers, Mulle concludes in a new Science Advances paper that mitochondrial regulation is disrupted in brain cells with 3q29 deletion, but it doesn’t give a mechanism for how the malfunctioning in the cell’s powerhouse might lead to schizophrenia or other conditions. That’s where the research is headed next. STAT’s Isabella Cueto has more. Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion https://www.science.org/doi/10.1126/sciadv.adh0558?utm_campaign=morning_rounds&utm_medium=email&_hsmi=270590419&_hsenc=p2ANqtz-_QOyN6r3kOmMqHnOBtrLhp4vXleG4K27zIvPjQEm4GY2oY09revAMXrRxMbc3tGOBR8vXZ3D2hm1WzYRzOskBowrsxCQ&utm_content=270590417&utm_source=hs_email