Mitochondrial Function and Pathology

Mitochondrial Transplantation: Adaptive Bio-enhancement

This study demonstrates that mitochondrial transplantation can restore bioenergetics in diseased cells, with metabolic compatibility and mitochondrial activity influencing therapeutic outcomes.

Mitochondrial morphology and function in mitochondrial disease

This study uses COX-SBFSEM to examine mitochondrial morphology and function in human muscle biopsies with mtDNA deletions, revealing distinct mitochondrial populations and spatial patterns of oxidative phosphorylation.

Translation fidelity and respiration deficits in CLPP-deficient tissues: Mechanistic insights from mitochondrial complexome

The paper identifies CLPP-deficiency-induced changes in mitochondrial translation and respiration, linking them to hearing loss in Perrault syndrome type 3.

Mitochondrial mutation spectrum in Chordates: damage versus replication signatures, causes, and dynamics

The paper analyzes the mitochondrial mutation spectrum in chordates, identifying three main mutation signatures and their underlying causes, with implications for age-related disease prevention.

Method for Depletion of Mitochondria DNA in Human Bronchial Epithelial Cells

The paper develops a method to deplete mitochondrial DNA in bronchial epithelial cells and shows the resulting metabolic changes.

A novel, wave-shaped profile of germline selection of pathogenic mtDNA mutations is discovered by bypassing a classical statistical bias.

This paper reveals a wave-shaped germline selection profile of mtDNA mutations by correcting for regression to the mean bias, showing how mutations are filtered in the germline.

Mitochondrial phosphagen kinases support the volatile power demands of motor nerve terminals

The paper quantifies power demand fluctuations in motor nerve terminals and identifies phosphagen systems as critical for ATP buffering during synaptic activity.

Genetic analysis and multimodal imaging identify novel mtDNA 12148T>C leading to multisystem dysfunction with tissue-specific heteroplasmy

The paper identifies a novel mtDNA variant m.12148T>C associated with multisystem dysfunction and highlights the importance of tissue-specific heteroplasmy analysis.

The mtDNA-derived lncMtDloop promotes mitochondrial homeostasis maintenance and implications in AD

This study identifies lncMtDloop as a regulator of mitochondrial homeostasis, showing reduced expression in AD and improved pathology with its overexpression.

Measuring mtDNA turnover, synthesis, and supercoiling via selective bromodeoxyuridine incorporation

The paper describes a protocol to measure mtDNA synthesis, turnover, and supercoiling using selective bromodeoxyuridine incorporation and Southwestern blotting.

Overexpression of mitochondrial fusion genes enhances resilience and extends longevity

This study shows that overexpressing mitochondrial fission or fusion genes increases lifespan and stress resistance in C. elegans, despite causing mitochondrial fragmentation.

Genome-wide screens for mitonuclear co-regulators uncover links between compartmentalized metabolism and mitochondrial gene expression

The paper identifies genes involved in mitochondrial and nuclear gene regulation for OXPHOS complex synthesis using genome-wide screens and characterizes their roles in mitochondrial RNA abundance and mitoribosome assembly.

A human mitofusin 2 mutation causes mitophagic cardiomyopathy

The paper identifies a mitofusin 2 mutation (R400Q) that causes mitophagic cardiomyopathy by impairing mitochondrial fusion and Parkin recruitment, distinct from its role in CMT2A.

An ATF4-centric regulatory network is required for the assembly and function of the OXPHOS system

This study identifies ATF4 as a critical regulator of OXPHOS assembly and function by analyzing human and murine cell lines with OXPHOS defects.

Molecular Basis for Maternal Inheritance of Human Mitochondrial DNA

The paper identifies the molecular mechanism by which human sperm mitochondria lack mtDNA and how TFAM re-localization leads to paternal mtDNA elimination.

Molecular pathway of mitochondrial preprotein import through the TOM-TIM23 supercomplex

The paper elucidates the molecular pathway of mitochondrial preprotein import through the TOM-TIM23 supercomplex using structural and biochemical analyses.

Comparative multi-omics analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency

The paper compares multi-omics data from three mouse models of partial frataxin deficiency to assess mitochondrial stress in the heart, finding mild transcriptional changes despite severe FXN reduction.

Loss of Wdr23 drives neuronal mitochondrial biogenesis

This study shows that loss of Wdr23 in mice increases nuclear-coded mitochondrial proteins and alters gene regulation related to mitochondrial biogenesis and stress responses.

Preserved respiratory chain capacity and physiology in mice with profoundly reduced levels of mitochondrial respirasomes

This study shows that mice with reduced respirasomes maintain normal bioenergetics and physiology, suggesting respirasomes are not essential for basic function but may have other roles.

SPTF-3/SP1 orchestrates mitochondrial biogenesis upon ribosomal stress and acute starvation

The paper identifies SPTF-3 as a stress-induced transcription factor regulating mitochondrial biogenesis and UPRmt in C. elegans, with its mammalian homolog SP1 showing conserved function in nutrient deprivation.

Nuclear genetic control of mtDNA copy number and heteroplasmy in humans

Blood whole genomes from 274,832 people yield 92 independent nuclear signals for mtDNA copy number and 42 for inherited heteroplasmy levels, implicating mtDNA replication machinery.

Functional mapping of N-terminal residues in the yeast proteome uncovers novel determinants for mitochondrial protein import.

The paper identifies N-terminal signatures in yeast proteins that influence mitochondrial import, showing hydrophobic residues at position 2 are critical and conserved across Saccharomycotina yeasts.

Let's make it clear: Systematic exploration of mitochondrial DNA- and RNA-protein complexes by complexome profiling

The paper optimizes complexome profiling to better study mitochondrial DNA- and RNA-protein interactions, demonstrating improved identification of interactors in human mitochondria with impaired gene expression.

SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement

This paper identifies SMDT1 variants that cause EMRE protein absence and impair mitochondrial calcium uptake in patients with muscle involvement.

Targeting the TCA cycle can ameliorate widespread axonal energy deficiency in neuroinflammatory lesions

The paper shows that TCA cycle dysfunction contributes to axonal energy deficiency in neuroinflammatory lesions and that restoring TCA enzymes can alleviate this deficit.

Cryptic mitochondrial ageing coincides with mid-late life and is pathophysiologically informative in single cells across tissues and species

The paper identifies cryptic mitochondrial DNA mutations in single cells across species and tissues, showing their association with ageing and pathophysiological processes.

Uncharacterized protein c17orf80: a novel interactor of human mitochondrial nucleoids

This paper identifies c17orf80 as a mitochondrial membrane protein interacting with nucleoids but not essential for mtDNA maintenance or expression in human cells.

MitoQuicLy: a high-throughput method for quantifying cell-free DNA from human plasma, serum, and saliva

MitoQuicLy quantifies cf-mtDNA in plasma, serum, and saliva with high agreement to column-based methods, showing significant inter-individual and biofluid-specific differences.

Maltodextrin administration ameliorates brain pathology in a mouse model of mitochondrial disease

This study shows that maltodextrin improves lifespan and reduces microglial reaction in Ndufs4KO mice, a model of mitochondrial disease, but does not improve locomotion or respiratory function.

Modeling of mitochondrial genetic polymorphisms reveals induction of heteroplasmy by pleiotropic disease locus MT:10398A>G

The paper investigates the association between mitochondrial variant MT:10398A>G and heteroplasmy in brain tissue and lymphoblastoid cell lines, identifying its role in mitochondrial function and disease phenotypes.