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).

[Translated article] Treatment strategies in vertebral metastasis. Need for multidisciplinary committees from the perspective of the surgeon. Narration of literature.

Improvements in cancer diagnosis and treatment have improved survival. Secondarily, the number of patients who present a vertebral metastasis and the number with some morbidity in relation to these metastases also increase. Vertebral fracture, root compression or spinal cord injury cause a deterioration of their quality of life.

Treatment strategies in vertebral metastasis. Need for multidisciplinary committees from the perspective of the surgeon. Narration of literatura.

Improvements in cancer diagnosis and treatment have improved survival. Secondarily, the number of patients who present a vertebral metastasis and the number with some morbidity in relation to these metastases also increases. Vertebral fracture, root compression or spinal cord injury cause a deterioration of their quality of life.

Comprehensive summary of mitochondrial DNA alterations in the postmortem human brain: A systematic review.

Background: Mitochondrial DNA (mtDNA) encodes 37 genes necessary for synthesizing 13 essential subunits of the oxidative phosphorylation system. mtDNA alterations are known to cause mitochondrial disease (MitD), a clinically heterogeneous group of disorders that often present with neuropsychiatric symptoms. Understanding the nature and frequency of mtDNA alterations in health and disease could be a cornerstone in disentangling the relationship between biochemical findings and clinical symptoms of brain disorders.