High frequency of mitochondrial DNA rearrangements in the peripheral blood of adults with intellectual disability.

Background: Mitochondrial DNA (mtDNA) rearrangements are recognised factors in mitochondrial disorders and ageing, but their involvement in neurodevelopmental disorders, particularly intellectual disability (ID) and autism spectrum disorder (ASD), remains poorly understood. Previous studies have reported mitochondrial dysfunction in individuals with both ID and ASD. The aim of this study was to investigate the prevalence of large-scale mtDNA rearrangements in ID and ID with comorbid ASD (ID-ASD).

High number of mitochondrial DNA alterations in postmortem brain tissue of patients with schizophrenia compared to healthy controls.

Previous studies have shown mitochondrial dysfunction in schizophrenia (SZ) patients, which may be caused by mitochondrial DNA (mtDNA) alterations. However, there are few studies in SZ that have analyzed mtDNA in brain samples by next-generation sequencing (NGS). To address this gap, we used mtDNA-targeted NGS and qPCR to characterize mtDNA alterations in brain samples from patients with SZ (n = 40) and healthy controls (HC) (n = 40).

Influence of the typology and timing of childhood trauma in psychoticism.

Purpose: Child maltreatment (CM) is associated with psychosis; however little is known about the frequency, type, and timing of abuse in the personality pathology domain of psychoticism (PSY) in the DSM-5. The purpose of this study was to analyze childhood trauma typology and frequency according to gender and to identify sensitive periods of susceptibility to CM in women with high PSY.

Methods: The Maltreatment and Abuse Chronology Exposure (MACE) scale was used to evaluate the frequency, severity and timing of each type of maltreatment.

Coexpression network analysis of the adult brain sheds light on the pathogenic mechanism of DDR1 in schizophrenia and bipolar disorder.

DDR1 has been linked to schizophrenia (SCZ) and bipolar disorder (BD) in association studies. DDR1 encodes 58 distinct transcripts, which can be translated into five isoforms (DDR1a-e) and are expressed in the brain. However, the transcripts expressed in each brain cell type, their functions and their involvement in SCZ and BD remain unknown.