Mitochondrial Function and Pathology

A Sexual Bias in mitochondrial protein-coding gene expression across different tissues and the prognostic value in multiple cancers

The paper identifies sex- and age-related differences in mitochondrial protein-coding gene expression across cancers and links these to prognosis and immune infiltration.

A Genetic Model Therapy Proposes a Critical Role for Liver Dysfunction in Mitochondrial Biology and Disease

This paper presents a zebrafish model of Leigh Syndrome, demonstrating liver dysfunction's critical role in mitochondrial disease through genetic rescue.

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

The paper uses single-cell multi-omics to study how pathogenic mtDNA mutations are subject to purifying selection in immune cells from Pearson syndrome patients.

Mito-SiPE: A sequence-independent, PCR-free mitochondrial DNA enrichment method for ultra-deep sequencing that minimises amplification and alignment artifacts.

The paper introduces Mito-SiPE, a PCR-free mitochondrial DNA enrichment method that reduces amplification and alignment artifacts, enabling ultra-deep sequencing of mtDNA in mouse tissues.

Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder

This paper identifies nuclear genetic factors modifying the clinical phenotype of m.3243A>G mitochondrial disease using genetic linkage analysis across 76 pedigrees.

Unleashing a Novel Function of Endonuclease G in Mitochondrial Genome Instability

This study identifies a novel function of Endonuclease G in inducing mitochondrial DNA deletions through G-quadruplex binding and microhomology-mediated repair.

Mathematical Modeling and Analysis of Mitochondrial Retrograde Signaling Dynamics

The paper develops a mathematical model of mitochondrial retrograde signaling in yeast, revealing bistability and noise sensitivity in signal dynamics.

Personality traits are consistently associated with blood mitochondrial DNA copy number estimated from genome sequences in two genetic cohort studies

This study finds that blood mitochondrial DNA copy number is consistently associated with personality traits and mediates the link between personality and mortality in two genetic cohorts.

Neuronal mitochondrial morphology is significantly affected by both fixative and oxygen level during perfusion

This study identifies fixation and oxygen levels during perfusion as critical factors affecting neuronal mitochondrial morphology in vitro and in vivo.

Cell-specific expression of key mitochondrial enzymes precludes OXPHOS in astrocytes of the adult human neocortex and hippocampal formation

The paper shows adult human astrocytes lack key mitochondrial proteins needed for oxidative phosphorylation, leading to lactate production instead of OXPHOS.

Remdesivir does not affect mitochondrial DNA copy number or deletion mutation frequency in aged male rats

This study investigates the effects of remdesivir on mitochondrial DNA in aged rats and finds no significant changes in copy number or deletion mutation frequency.

Profiling subcellular localization of nuclear-encoded mitochondrial gene products in zebrafish

The paper profiles subcellular localization of nuclear-encoded mitochondrial gene products in zebrafish by analyzing RNA from different cellular fractions and quantifying transcriptomic changes in a chchd4a-/- mutation.

The Role of Mitochondrial genome abundance in Alzheimer's Disease

The paper investigates the association between mitochondrial genome abundance and Alzheimer's disease, finding lower abundance correlates with worse neuropathology and cognitive performance.

Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number

Yeast NDI1 reconfigures neuronal metabolism and prevents the unfolded protein response in mitochondrial complex I deficiency

The paper shows that yeast NDI1 restores metabolite levels, ER-mitochondria contacts, and rescues behavioral and lifespan defects in Drosophila with neuronal complex I deficiency.

Deleterious heteroplasmic mitochondrial mutations increase risk of overall and cancer-specific mortality

This study identifies that heteroplasmic mitochondrial mutations increase mortality risk and are linked to cancer incidence and outcomes, particularly leukemia.

Mitochondrial interactome quantitation reveals structural changes in metabolic machinery in failing murine heart

The paper uses XL-MS and iqPIR to compare mitochondrial protein interactions in healthy and failing murine hearts, identifying structural changes in metabolic machinery.

Dynamic behavior of cell-free mitochondrial DNA in human saliva

This study measures dynamic changes in cell-free mitochondrial DNA in human saliva and finds it varies significantly over time, correlates with cortisol awakening response, and inversely with interleukin 6.

Functional characterization of two variants in the mitochondrial topoisomerase gene TOP1MT that impact regulation of the mitochondrial genome

The paper characterizes two TOP1MT variants in a patient with hypertrophic cardiomyopathy, showing both impair mitochondrial functions but affect different aspects of mtDNA regulation.

Mitochondrial networks of microglia adapt in a sex-specific manner upon injury-induced stress and UCP2 knockout

This study examines mitochondrial network adaptations in microglia under injury and UCP2 knockout, revealing sex-specific differences in stress response.

A comparison of mtDNA deletion mutant proliferation mechanisms

This study simulates three mtDNA deletion proliferation mechanisms to assess their impact on neuron loss and heteroplasmy levels at dementia-associated mutation rates.

Resistance of mitochondrial DNA to chemical-induced germline mutations is independent of mitophagy in C. elegans

This study investigates the effects of cadmium and Aflatoxin B1 on mtDNA mutagenesis in C. elegans, finding no effect on mutation frequency or spectrum despite mitophagy defects.

IGF1 Receptor Regulates Upward Firing Rate Homeostasis via the Mitochondrial Calcium Uniporter

This study shows that IGF1R regulates firing rate homeostasis by modulating mitochondrial calcium uniporter function in neurons.

Regulation of mitochondrial proteostasis by the proton gradient

The paper shows that the mitochondrial proton gradient regulates the m-AAA protease AFG3L2 through TMBIM5, linking protein turnover to mitochondrial energy status and Ca2+ signaling.

Heteroplasmic Mitochondrial Genetic Variation in the Human Heart

The paper examines heteroplasmic mitochondrial genetic variants in human cardiac tissues and finds they differ from those in blood and skeletal muscle, with higher variant counts in cardiac tissue linked to age.

Mitochondrial complementation occurs in rat hippocampal axons and supports the synaptic vesicle cycle.

The paper investigates mitochondrial trafficking and fusion in rat hippocampal axons, showing that mitochondrial complementation supports synaptic vesicle cycle function.

Changes to the mtDNA copy number during yeast culture growth

This study shows that mtDNA copy number in yeast cultures increases up to fourfold during growth, with variations depending on metabolic state and strain.

Enhanced mitochondrial biogenesis promotes neuroprotection in human stem cell derived retinal ganglion cells of the central nervous system

The paper identifies that enhancing mitochondrial biogenesis through TBK1 inhibition protects glaucomatous retinal ganglion cells from mitochondrial damage.

Disruption of the MICOS complex leads to an aberrant cristae structure and an unexpected, pronounced lifespan extension in Podospora anserina

This study shows that disrupting the MICOS complex in Podospora anserina leads to altered mitochondrial structure and extended lifespan, with different subcomplexes affecting lifespan through distinct mechanisms.

Tumor Suppressor p53 Restrains Cancer Cell Dissemination by Modulating Mitochondrial Dynamics

This study shows that p53 suppresses cancer cell metastasis by modulating mitochondrial dynamics through the mTORC1/MTFP1/Drp1/ERK1/2 pathway.