Mitochondrial Function and Pathology

Disease-causing mutations in subunits of OXPHOS complex I affect their physical interactions

The paper uses a split mDHFR PCA assay to assess how disease-causing mutations in OXPHOS complex I subunits affect their physical interactions.

Retrograde mitochondrial transport is essential for mitochondrial homeostasis in neurons

This study shows retrograde mitochondrial transport is essential for maintaining mitochondrial homeostasis and synaptic activity in neurons.

Immortalization of different breast epithelial cell types results in distinct mitochondrial mutagenesis

This study compares mitochondrial mutagenesis in stem and non-stem cell-derived immortalized breast epithelial cells, finding lower mutation rates and pathogenicity in stem cell-derived cells.

Serotonin regulates mitochondrial biogenesis and function in rodent cortical neurons via the 5-HT2A receptor and SIRT1-PGC-1α axis

This study identifies serotonin as a regulator of mitochondrial biogenesis and function in rodent cortical neurons through the 5-HT2A receptor and SIRT1-PGC-1α axis, with neuroprotective effects.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3’-end processing

This study identifies novel ELAC2 variants linked to hypertrophic cardiomyopathy and mitochondrial dysfunction, confirms their pathogenicity through in vitro analysis, and links one variant to prostate cancer.

Clinical long-read sequencing of the human mitochondrial genome for mitochondrial disease diagnostics

This study evaluates the use of Oxford Nanopore MinION long-read sequencing for detecting mtDNA deletions in mitochondrial disease diagnostics, finding it effective for large deletions but less reliable for single nucleotide variants.

Schwann cell demyelination is triggered by a transient mitochondrial calcium release through Voltage Dependent Anion Channel 1

This study identifies mitochondrial calcium release through VDAC1 as a key trigger for Schwann cell demyelination via MAPK and c-Jun activation.

Quantitative mitochondrial DNA copy number determination using droplet digital PCR with single cell resolution: a focus on aging and cancer

This paper introduces a ddPCR method to measure mtDNA copy number at single-cell resolution, showing its ability to detect subtle changes in mtDNA content across aging and cancer.

PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts and white matter changes

The paper identifies PISD as a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes through exome sequencing and functional analysis of patient fibroblasts.

Twinkle is not the mitochondrial DNA replicative helicase in C. elegans, but may have alternate mitochondrial functions

This study shows that twnk-1 in C. elegans is not the mitochondrial DNA replicative helicase, but instead has alternative mitochondrial functions.

ATM is activated by ATP depletion and modulates mitochondrial function through NRF1

The paper shows that ATP depletion causes oxidative stress, activates ATM, which phosphorylates NRF1 to enhance mitochondrial function, and that ATM deficiency impairs ATP recovery in energy-demanding cells.

Forcing contacts between mitochondria and the endoplasmic reticulum extends lifespan in a Drosophila model of Alzheimers disease

The paper shows that increasing mitochondria-ER contacts in Drosophila improves locomotion, extends lifespan, and reduces Alzheimer's disease symptoms.

Minimal effects of spargel (PGC-1α) overexpression in a Drosophila mitochondrial disease model

This study shows that overexpressing spargel in a Drosophila mitochondrial disease model has minimal effects on phenotype and gene expression.

Parl Deficiency In Mouse Causes Coenzyme Q Depletion, Complex III Defects, And Leigh-Like Syndrome

This study shows that Parl deficiency in mice leads to mitochondrial dysfunction, Complex III defects, and Leigh-like syndrome, highlighting its critical role in neurological health.

MITO-Tag Mice enable rapid isolation and multimodal profiling of mitochondria from specific cell types in vivo

The paper introduces MITO-Tag Mice to isolate mitochondria from specific cell types in vivo and identifies mitochondrial metabolite changes during fasting and refeeding in hepatocytes.

Insights on the impact of mitochondrial organisation on bioenergetics in high-resolution computational models of cardiac cell architecture

The paper uses computational models to show that mitochondrial arrangement affects metabolite distribution and force dynamics in cardiac cells, with implications under hypoxia.

Light-evoked activity and BDNF regulate mitochondrial dynamics and mitochondrial localized translation

The paper shows that light-evoked activity and BDNF regulate mitochondrial dynamics and localized translation in axons during retinal ganglion cell maturation.

Morphology of Mitochondria in Spatially Restricted Axons Revealed by Cryo-Electron Tomography

This study uses cryo-electron tomography to show that spatial restrictions in axons and presynaptic varicosities influence mitochondrial morphology and membrane organization.

Acute Psychological Stress Triggers Circulating Cell-Free Mitochondrial DNA

This study shows psychological stress increases circulating cell-free mitochondrial DNA (ccf-mtDNA) in humans through glucocorticoid signaling, with no change in nuclear DNA levels.

Mitochondria promote neuropeptide secretion in Caenorhabditis elegans by preventing activation of hypoxia inducible factor

This study shows that axonal mitochondria in C. elegans are necessary for neuropeptide secretion, and that oxidative phosphorylation, not calcium uptake, is required for this process.

OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer

This study develops OCR-Stats, a statistical method to improve the accuracy of mitochondrial respiration measurements from Seahorse XF Analyzer data by addressing noise and variation across plates and wells.

Oxidative-Phosphorylation Genes From The Mitochondrial And Nuclear Genomes Co-Express In All Human Tissues Except For The Ancient Brain

The paper examines co-expression of mitochondrial and nuclear OXPHOS genes across human tissues, finding positive co-expression in most tissues but negative correlation in ancient brain regions.

Targeted Reduction of Pathogenic Heteroplasmy Through Binding of G-Quadruplex DNA

This study shows that small-molecule G-quadruplex binders can reduce pathogenic mtDNA heteroplasmy in fibroblasts, increasing complex I protein levels.

Proteostasis perturbation destabilizes respiratory complex assembly-intermediates via aggregation of subunits

The paper shows that proteostasis disruption leads to RCC subunit aggregation, impairing complex assembly and causing mitochondrial dysfunction.

Low-level mitochondrial heteroplasmy modulates DNA replication, glucose metabolism and lifespan in mice

This study shows that high mitochondrial heteroplasmy in mice reduces lifespan and impairs glucose metabolism.

Loss of SDHB reprograms energy metabolisms and inhibits high fat diet induced metabolic syndromes

This study shows that SDHB deficiency reprograms energy metabolism and protects against high fat diet-induced obesity by restoring glucose and lipid metabolism.

Thermodynamic analysis of mitochondrial DNA breakpoints reveals mechanistic details of deletion mutagenesis

The paper analyzes mtDNA deletion breakpoints using thermodynamic methods to identify misalignment lengths and proposes mechanisms for DSB-induced deletions.

Mitochondrial Ultrastructure Is Coupled to Synaptic Performance at Axonal Release Sites

The paper shows that mitochondrial ultrastructure in axons correlates with synaptic performance in mice and humans, indicating activity-dependent plasticity of mitochondria in response to synaptic demand.

Combination of mitochondrial tRNA and OXPHOS mutation reduces lifespan and physical condition in aged mice

The paper shows that combining mitochondrial tRNA and OXPHOS mutations in mice leads to reduced lifespan and physical condition with age, but not with single mutations.

Chasing a moving target: Detection of mitochondrial heteroplasmy for clinical diagnostics

The paper develops a method to detect mitochondrial heteroplasmy using NGS data and evaluates sources of mtDNA for clinical diagnostics.