Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells

CA Lareau, SM Dubois, FA Buquicchio, YH Hsieh… - Nature …, 2023 - nature.com
Pathogenic mutations in mitochondrial DNA (mtDNA) compromise cellular metabolism,
contributing to cellular heterogeneity and disease. Diverse mutations are associated with …

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

A Valiente-Pallejà, J Tortajada, BK Bulduk, E Vilella… - …, 2022 - thelancet.com
Summary Background Mitochondrial DNA (mtDNA) encodes 37 genes necessary for
synthesizing 13 essential subunits of the oxidative phosphorylation system. mtDNA …

Psychiatric drugs impact mitochondrial function in brain and other tissues

ST Chan, MJ McCarthy, MP Vawter - Schizophrenia research, 2020 - Elsevier
Mitochondria have been linked to the etiology of schizophrenia (SZ). However, studies of
mitochondria in SZ might be confounded by the effects of pharmacological treatment with …

Mitochondria DNA copy number, mitochondria DNA total somatic deletions, Complex I activity, synapse number, and synaptic mitochondria number are altered in …

SC Das, BE Hjelm, BL Rollins, A Sequeira… - Translational …, 2022 - nature.com
Mitochondrial dysfunction is a neurobiological phenomenon implicated in the
pathophysiology of schizophrenia and bipolar disorder that can synergistically affect …

Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging

SA Lujan, MJ Longley, MH Humble, CA Lavender… - Genome biology, 2020 - Springer
Background Acquired human mitochondrial genome (mtDNA) deletions are symptoms and
drivers of focal mitochondrial respiratory deficiency, a pathological hallmark of aging and …

Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing

S Basu, X Xie, JP Uhler, C Hedberg-Oldfors… - PLoS …, 2020 - journals.plos.org
Deletions and duplications in mitochondrial DNA (mtDNA) cause mitochondrial disease and
accumulate in conditions such as cancer and age-related disorders, but validated high …

Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications

WL Macken, M Falabella, C Pizzamiglio… - Expert Review of …, 2023 - Taylor & Francis
ABSTRACT Introduction Primary mitochondrial diseases (PMDs) comprise a large and
heterogeneous group of genetic diseases that result from pathogenic variants in either …

Mitochondria-wide association study observed significant interactions of mitochondrial respiratory and the inflammatory in the development of anxiety and depression

L Liu, S Cheng, X Qi, P Meng, X Yang, C Pan… - Translational …, 2023 - nature.com
The aim of this study was to investigate the possible interaction of mitochondrial dysfunction
and inflammatory cytokines in the risk of anxiety and depression. We utilized the UK Biobank …

RNA G-quadruplex folding is a multi-pathway process driven by conformational entropy

M Ugrina, I Burkhart, D Müller, H Schwalbe… - Nucleic Acids …, 2024 - academic.oup.com
The kinetics of folding is crucial for the function of many regulatory RNAs including RNA G-
quadruplexes (rG4s). Here, we characterize the folding pathways of a G-quadruplex from the …

Common mitochondrial deletions in RNA-Seq: evaluation of bulk, single-cell, and spatial transcriptomic datasets

AA Omidsalar, CG McCullough, L Xu… - Communications …, 2024 - nature.com
Common mitochondrial DNA (mtDNA) deletions are large structural variants in the
mitochondrial genome that accumulate in metabolically active tissues with age and have …