bims-polgdi Biomed News
on POLG disease
Issue of 2025–08–17
nineteen papers selected by
Luca Bolliger, lxBio



  1. Aging Dis. 2025 Jul 31. 16(5): 2495-2497
      Mitochondrial dysfunction is increasingly recognized as a unifying mechanism underlying aging and a wide range of age-related diseases. This special issue brings together recent advances that elucidate how impaired mitochondrial function contributes to neurodegenerative, cardiovascular, and metabolic disorders. The featured articles highlight molecular pathways of mitochondrial decline, its systemic consequences, and potential interventions aimed at restoring mitochondrial health. Collectively, these studies reinforce the concept that targeting mitochondrial integrity holds significant promise for promoting healthy aging and preventing chronic disease.
    DOI:  https://doi.org/10.14336/AD.2025.10731
  2. J Rare Dis (Berlin). 2025 ;4(1): 47
      The spectrum of disease associated with pathogenic mitochondrial DNA (mtDNA) variants is wide. Most often, heteroplasmic mitochondrial DNA disease is the result of an adenine to guanine transition at position 3243 of mtDNA (m.3243A > G) in the MT-TL1 gene encoding tRNALeu(UUR). Here, we present a case of a patient with a rarer m.3243A > T variant whose phenotype was severe and included delayed growth, developmental delay, myoclonic jerks and tonic-clonic seizures, progressive myopathy, cerebellar ataxia, severe malnutrition due to intestinal dysmotility despite naso-jejunal feeding requiring total parenteral nutrition, bilateral sensorineural hearing loss, and visual impairment, including bilateral cataracts requiring treatment and pigmentary retinopathy. At age 18 years, he developed severe nephrotic syndrome secondary to a membranoproliferative pattern of glomerular injury, which was resistant to treatment and led to premature death.
    Keywords:  MELAS; Membranoproliferative glomerulonephritis; Mitochondrial disorders; Nephrotic syndrome; mtDNA
    DOI:  https://doi.org/10.1007/s44162-025-00110-0
  3. Expert Rev Mol Diagn. 2025 Aug 15.
      
    Keywords:  embryo; heteroplasmy; mitochondrial DNA; mitochondrial donation; mtDNA inheritance; pre-implantation genetic screening
    DOI:  https://doi.org/10.1080/14737159.2025.2545967
  4. Life Med. 2025 Aug;4(4): lnaf019
      Mitochondrial dysfunction is a hallmark of aging, characterized by a decline in mitochondrial biogenesis and quality control, compromised membrane integrity, elevated ROS production, damaged mitochondrial DNA (mtDNA), impaired mitochondrial-nuclear crosstalk, and deregulated metabolic balance. Among the key longevity regulators, sirtuin family members SIRT3, SIRT4, and SIRT5 are predominantly localized to mitochondria and play crucial roles in maintaining mitochondrial function and homeostasis. This review explores how mitochondrial sirtuins mitigate aging-related mitochondrial dysfunctions and their broader implications in aging-related diseases. By elucidating the intricate interplay between mitochondrial dysfunction and mitochondrial sirtuins, we aim to provide insights into therapeutic strategies for promoting healthy aging and combating age-related pathologies.
    Keywords:  aging; mitochondrial dysfunction; mitochondrial sirtuins
    DOI:  https://doi.org/10.1093/lifemedi/lnaf019
  5. EMBO Mol Med. 2025 Aug 11.
      Mitochondrial diseases, caused by mutations in nuclear or mitochondrial DNA (mtDNA), have limited treatment options. For mtDNA mutations, reducing the mutant-to-wild-type mtDNA ratio (heteroplasmy shift) is a promising strategy, though it currently faces challenges. Previous research showed that severe mitochondrial dysfunction triggers an adaptive nuclear epigenetic response, through changes in DNA methylation, absent or less important for subtle mitochondrial impairment. Therefore, we hypothesized that targeting nuclear DNA methylation could impair cells with high-mutant mtDNA load while sparing those with lower levels, reducing overall heteroplasmy. Using cybrid models harboring two disease-causing mtDNA mutations-m.13513 G > A and m.8344 A > G-at varying heteroplasmies, we discovered that both the mutation type and load distinctly shape the nuclear DNA methylome. We found this methylation pattern critical for the survival of high-heteroplasmy cells but not for low-heteroplasmy ones. Treatment with FDA-approved DNA methylation inhibitors selectively impacted high-heteroplasmy cybrids and reduced heteroplasmy. These findings were validated in cultured cells and xenografts. Our findings highlight nuclear DNA methylation as a key regulator of heteroplasmic cell survival and a potential therapeutic target for mitochondrial diseases.
    Keywords:  DNA Methylation; Epigenetics; Heteroplasmy; Mitochondrial DNA; Mitochondrial Diseases
    DOI:  https://doi.org/10.1038/s44321-025-00285-5
  6. Elife. 2025 Aug 11. pii: RP99936. [Epub ahead of print]13
      In cleavage-stage embryos, preexisting organelles partition evenly into daughter blastomeres without significant cell growth after symmetric cell division. The presence of mitochondrial DNA within mitochondria and its restricted replication during preimplantation development makes their inheritance particularly important. While chromosomes are precisely segregated by the mitotic spindle, the mechanisms controlling mitochondrial partitioning remain poorly understood. In this study, we investigate the mechanism by which Dynamin-related protein 1 (Drp1) controls the mitochondrial redistribution and partitioning during embryonic cleavage. Depletion of Drp1 in mouse zygotes causes marked mitochondrial aggregation, and the majority of embryos arrest at the 2 cell stage. Clumped mitochondria are located in the center of mitotic Drp1-depleted zygotes with less uniform distribution, thereby preventing their symmetric partitioning. Asymmetric mitochondrial inheritance is accompanied by functionally inequivalent blastomeres with biased ATP and endoplasmic reticulum Ca2+ levels. We also find that marked mitochondrial centration in Drp1-depleted zygotes prevents the assembly of parental chromosomes, resulting in chromosome segregation defects and binucleation. Thus, mitochondrial fragmentation mediated by Drp1 ensures proper organelle positioning and partitioning into functional daughters during the first embryonic cleavage.
    Keywords:  Dynamin-related protein 1; binuclear formation; chromosome segregation; developmental biology; mitochondrial dynamics; mouse; organelle inheritance; preimplantation development
    DOI:  https://doi.org/10.7554/eLife.99936
  7. Front Bioeng Biotechnol. 2025 ;13 1639439
      Mesenchymal stem cells (MSCs) are emerging as a powerful tool in regenerative medicine due to their ability to differentiate into mesenchymal lineages, such as bone, cartilage, and fat, along with their low immunogenicity and strong immunomodulatory properties. Unlike traditional cell therapies that rely on engraftment, MSCs primarily function through paracrine signaling-secreting bioactive molecules like vascular endothelial growth factor (VEGF), transforming growth factor-beta (TGF-β), and exosomes. These factors contribute to tissue repair, promote angiogenesis, and modulate immune responses in damaged or inflamed tissues. Recent studies have identified mitochondrial transfer as a novel therapeutic mechanism, where MSCs donate mitochondria to injured cells, restoring their bioenergetic function. This has expanded the therapeutic potential of MSCs to include conditions such as acute respiratory distress syndrome (ARDS) and myocardial ischemia. Clinically, MSCs have shown efficacy in diseases like graft-versus-host disease (GVHD), Crohn's disease, and COVID-19. Trials such as REMODEL and REMEDY have demonstrated improved clinical outcomes, further validating MSC-based interventions. However, several challenges remain, including variability in cell potency, poor engraftment, and inconsistent results across clinical trials. Advances in genetic engineering such as CRISPR-modified MSCs and biomaterial scaffolds are being developed to enhance therapeutic efficacy and cell survival. Additionally, AI-driven platforms are being utilized to personalize MSC therapy and optimize cell selection. Innovative approaches like 3D bioprinting and scalable manufacturing are paving the way for more consistent and precise therapies. Moving forward, the integration of mechanistic insights with robust quality control and regulatory frameworks essential to translating MSC therapies from bench to bedside and ensuring their reliable application in clinical practice.
    Keywords:  clinical evidence; immunomodulation; mesenchymal stem cells (MSCs); paracrine signaling; regenerative medicine; regulatory
    DOI:  https://doi.org/10.3389/fbioe.2025.1639439
  8. Cells. 2025 Jul 25. pii: 1148. [Epub ahead of print]14(15):
      The intranasal delivery of exogenous mitochondria is a potential therapy for Parkinson's disease (PD). The regulatory mechanisms and effectiveness in genetic models remains uncertain, as well as the impact of modulating the mitochondrial permeability transition pore (mPTP) in grafts. Utilizing UQCRC1 (p.Tyr314Ser) knock-in mice, and a cellular model, this study validated the transplantation of mitochondria with or without cyclosporin A (CsA) preloading as a method to treat mitochondrial dysfunction and improve disease progression through intranasal delivery. Liver-derived mitochondria were labeled with bromodeoxyuridine (BrdU), incubated with CsA to inhibit mPTP opening, and were administered weekly via the nasal route to 6-month-old mice for six months. Both treatment groups showed significant locomotor improvements in open-field tests. PET imaging showed increased striatal tracer uptake, indicating enhanced dopamine synthesis capacity. The immunohistochemical analysis revealed increased neuron survival in the dentate gyrus, a higher number of tyrosine hydroxylase (TH)-positive neurons in the substantia nigra (SN) and striatum (ST), and a thicker granule cell layer. In SN neurons, the function of mitochondrial complex III was reinstated. Additionally, the CsA-accumulated mitochondria reduced more proinflammatory cytokine levels, yet their therapeutic effectiveness was similar to that of unmodified mitochondria. External mitochondria were detected in multiple brain areas through BrdU tracking, showing a 3.6-fold increase in the ST compared to the SN. In the ST, about 47% of TH-positive neurons incorporated exogenous mitochondria compared to 8% in the SN. Notably, GFAP-labeled striatal astrocytes (ASTs) also displayed external mitochondria, while MBP-labeled striatal oligodendrocytes (OLs) did not. On the other hand, fewer ASTs and increased OLs were noted, along with lower S100β levels, indicating reduced reactive gliosis and a more supportive environment for OLs. Intranasally, mitochondrial transplantation showed neuroprotective effects in genetic PD, validating a noninvasive therapeutic approach. This supports mitochondrial recovery and is linked to anti-inflammatory responses and glial modulation.
    Keywords:  Parkinson’s disease; UQCRC1 mutation (p.Tyr314Ser) knock-in mice; cyclosporine A; glial modulation; inflammatory cytokines; intranasal delivery; mitochondrial function; mitochondrial transplantation; neuroprotection; striatal astrocytes; striatal oligodendrocytes
    DOI:  https://doi.org/10.3390/cells14151148
  9. Int J Mol Sci. 2025 Jul 26. pii: 7245. [Epub ahead of print]26(15):
      Idiopathic childhood nephrotic syndrome is a common glomerulopathy comprising proteinuria, hypoalbuminemia, and edema. Podocyte dysfunction is central to this disease process. Extracellular vesicles are released from stressed cells and can represent a molecular snapshot of the parent cell of origin. We previously showed that urinary large extracellular vesicles (LEVs) derived from podocytes are increased in patients with nephrotic syndrome relapse. Here, we investigated the role of mitochondrial DNA (mtDNA) within LEVs both in vitro and in vivo, revealing the novel finding that podocytes release LEVs containing mtDNA, driven by mitochondrial stress. A puromycin aminonucleoside nephrosis rat model showed foot process effacement on electron microscopy and urinary LEVs with significantly increased mtDNA. Prednisolone, which drives remission in nephrotic syndrome in children, attenuated mitochondrial stress and reduced the amount of mtDNA content within LEVs in vitro. Lastly, urinary LEVs from children with nephrotic syndrome also contain mtDNA, and it is the podocyte LEV-fraction which is preferentially enriched. Overall, these data support a potential mechanism of podocyte mitochondrial stress in non-genetic, idiopathic pediatric nephrotic syndrome.
    Keywords:  extracellular vesicles; mitochondria; nephrotic syndrome; pediatrics
    DOI:  https://doi.org/10.3390/ijms26157245
  10. J Cell Sci. 2025 Aug 15. pii: jcs264018. [Epub ahead of print]138(16):
      In youth, energy deprivation primarily results from fasting. Because inconsistent nutrient availability is common for most organisms, natural selection has provided mechanisms that detect nutrient-deprived states, followed by adaptive responses that increase the likelihood of survival until nutrients are restored. Organisms respond to fasting first by oxidizing the cellular cytoplasm, then by activating redox-sensitive kinases - namely the c-Jun N-terminal kinases (henceforth collectively termed JNK) and AMP-activated protein kinase (AMPK) - and Foxo transcription factors (henceforth referred to collectively as Foxo). Together, JNK, AMPK and Foxo induce autophagy. This fasting response is beneficial because autophagy supplies substrates for metabolism that replace missing nutrients and enhances removal of damaged organelles such as mitochondria, which increases lifespan and enhances survival through the fast. Although this response is adaptive in the context of acute nutrient deprivation, it can have harmful consequences when activated chronically. Here, I propose that cells from old organisms are constitutively energy deprived because of lifetime accumulation of dysfunctional mitochondria. As a result, these cells reactivate the fasting response seen in youth. Hence, old organisms constitutively oxidize the cellular cytoplasm and activate JNK, AMPK, Foxo and, finally, autophagy. However, because energy deprivation in old age is driven by mitochondrial insufficiency rather than nutrient deprivation, this response fails to restore ATP production and becomes chronic and deleterious. I suggest that many age-related pathologies, such as oxidative stress, neurodegeneration and sarcopenia, result from aberrant activation of the fasting response.
    Keywords:  Aging; Autophagy; Nutrient deprivation; Oxidative Stress; Signal transduction
    DOI:  https://doi.org/10.1242/jcs.264018
  11. Science. 2025 Aug 14. 389(6761): eadr6326
      As major consumers of cellular metabolites, mitochondria are poised to compete with invading microbes for the nutrients that they need to grow. Whether cells exploit mitochondrial metabolism to protect from infection is unclear. In this work, we found that the activating transcription factor 4 (ATF4) activates a mitochondrial defense based on the essential B vitamin folate. During infection of cultured mammalian cells with the intracellular pathogen Toxoplasma gondii, ATF4 increased mitochondrial DNA levels by driving the one-carbon metabolism processes that use folate in mitochondria. Triggered by host detection of mitochondrial stress induced by parasite effectors, ATF4 limited Toxoplasma access to folates required for deoxythymidine monophosphate synthesis, thereby restricting parasite growth. Thus, ATF4 rewires mitochondrial metabolism to mount a folate-based metabolic defense against Toxoplasma.
    DOI:  https://doi.org/10.1126/science.adr6326
  12. Sci Rep. 2025 Aug 09. 15(1): 29167
      Mitochondria are central to cellular energy metabolism and play a critical role in tissue regeneration. Mitochondrial dysfunction contributes to a range of degenerative conditions and impaired wound healing, driving increasing interest in mitochondrial transplantation as a novel therapeutic strategy. Gastrointestinal wound healing is particularly susceptible to failure, with complications such as post-surgical fistula formation commonly occurring after procedures like sleeve gastrectomy. Mitochondria derived from human mesenchymal stromal/stem cells (hMSCs) have shown promise in restoring tissue bioenergetics and promoting repair across various disease models. In this study, we evaluated the therapeutic potential of hMSC-derived mitochondria as a nano-biotherapy for gastrointestinal wound healing using a rat model of post-operative fistula. Structurally intact mitochondria were isolated from hMSCs and either applied to human colonic epithelial cells (HCEC-1CT) in vitro or transplanted locally into fistula-bearing rats. Mitochondrial treatment led to a dose-dependent increase in cellular metabolic activity, intracellular ATP levels, and mitochondrial uptake by recipient cells. In vivo, mitochondrial transplantation significantly accelerated fistula closure and tissue regeneration compared to controls. These findings underscore the translational promise of mitochondria-based, cell-free therapies and lay the groundwork for future regenerative strategies targeting gastrointestinal wound repair.
    Keywords:  Biotherapy; Human mesenchymal stromal cells (hMSCs); Mitochondria transplantation; Post-surgical fistula; Wound healing, regenerative medicine
    DOI:  https://doi.org/10.1038/s41598-025-13887-3
  13. Clin Genet. 2025 Aug 11.
    RePOWER, MMPOWER‐3, and MOTOR investigators
      Primary mitochondrial myopathies (PMMs), a group of genetic mitochondrial oxidative phosphorylation disorders, primarily affect skeletal muscle function. No approved treatments for PMM exist, and patient information is limited. The international RePOWER registry (NCT03048617) assessed genotypic and phenotypic relationships in PMM and identified patients for MMPOWER-3 (elamipretide Phase 3 study). RePOWER enrolled screened and ambulatory patients aged 16-80 years. With signs and/or symptoms of PMM (N = 376; 60.4% female; mean [SD] age 42.6 [14.4] years; ~75% with an mtDNA variant and ~25% with an nDNA variant). Baseline information, current symptoms, qualityoflife, and functional assessments (6-Minute Walk Test [6MWT], Triple-Timed Up-and-Go [3TUG] Test, and 5-Times Sit-to-Stand Test [5XSST]) were captured. Accredited laboratory and genetic testing methods were available to most patients. The majority of enrolled PMM patients presented with progressive external ophthalmoplegia and fatigue. US patients were observed to use more medical interventions. Compared to non-US patients, US patients did not perform as well on the 6MWT (mean 364.6 vs. 375.2 m) and 5XSST (mean 21.6 vs. 18.6 s); US patients performed better on the 3TUG test (mean 40.2 vs. 45.0 s). The RePOWER registry provided data on patients with genetically confirmed PMM, thereby improving our understanding of PMM diagnosis and treatment and the differences in global mitochondrial clinical practice.
    Keywords:   MMPOWER ; PMM ; RePOWER ; elamipretide; primary mitochondrial myopathy
    DOI:  https://doi.org/10.1111/cge.70026
  14. Mol Ther Nucleic Acids. 2025 Sep 09. 36(3): 102635
      Recent advances in gene-editing technologies offer new opportunities for drug development to treat unmet medical needs in central nervous system (CNS) disorders including neurogenerative diseases of the aging brain. The adeno-associated virus (AAV) is a promising and most widely utilized vector for gene therapy application including the CNS. AAV is characterized by high transduction efficiency in both dividing and non-dividing cells, low immunogenicity and toxicity, and exceptional tissue specificity. The development of clustered regularly interspaced short-palindromic repeat (CRISPR)-based technologies has revolutionized all aspects of modern sciences and created an innovative therapeutic toolkit with the potential to address a wide range of neurological diseases, including Alzheimer's (AD) and Parkinson's (PD) diseases. However, AAV limitations for delivering CRISPR modalities continue to impede viable therapeutic interventions targeting the brain. This review highlights challenges and strategies to deliver AAV-CRISPR-based therapeutic cargos for gene therapy applications in the CNS, with a particular focus on AD and PD preclinical studies.
    Keywords:  APOE; Alzheimer’s disease; MT: Delivery Strategies; Parkinson’s disease; SNCA; adeno-associated vector; all-in-one delivery system; clustered regularly interspaced short-palindromic repeats/CRISPR-associated protein; epigenome-based editing; gene editing; transcriptional repressor
    DOI:  https://doi.org/10.1016/j.omtn.2025.102635
  15. ACS Omega. 2025 Aug 05. 10(30): 32544-32563
      The blood-brain barrier (BBB) greatly hinders the delivery of therapeutic agents to the brain. Vast efforts have been dedicated to exploring novel strategies and developing technologies to enhance the delivery of drugs, nucleic acids, antibodies, etc., effectively in the context of brain tumors, neurodegenerative diseases, and other brain pathologies. These strategies aim to guarantee impactful and targeted accumulation of the delivered agents within the brain or within specific areas or niches through either localized sustained delivery (convection-enhanced delivery and implantable biodegradable polymer-based systems), encapsulation of the agents within vectors that can enhance their ability to penetrate the BBB and achieve proper interstitial distribution (viral vectors, exosomes, and nanoparticles), or modulation of the BBB to facilitate the crossing of the delivered cargo (focused ultrasound and receptor/transporter-mediated delivery). Indeed, exploring these innovative strategies and how they may work synergistically with conventional treatments is crucial to advancing the management of brain pathologies.
    DOI:  https://doi.org/10.1021/acsomega.5c00364
  16. Nat Aging. 2025 Aug;5(8): 1415-1424
      Senescent cells are intrinsically immunogenic and can be eliminated by the immune system to facilitate tissue repair and regeneration. However, immune-mediated elimination is compromised with age, causing senescent cell accumulation in tissues, thus limiting healthspan and lifespan and promoting age-related diseases such as cancer. Here, we review how different components of the innate and adaptive immune systems, including natural killer cells, macrophages, neutrophils, dendritic cells, T cells and B cells, target senescent cells and how the intrinsic properties of senescent cells can lead to their escape from surveillance. We also discuss the phenomenon of senescence in immune cells themselves and how this affects the surveillance of senescent and cancerous cells. Finally, we touch on emerging therapeutic strategies to enhance the immunosurveillance of senescent cells, as understanding the molecular basis of senescence immunosurveillance and why its potency fails during aging may offer opportunities to treat senescence-mediated age-associated diseases and tissue dysfunction.
    DOI:  https://doi.org/10.1038/s43587-025-00910-5
  17. Mol Genet Metab. 2025 Jul 30. pii: S1096-7192(25)00204-5. [Epub ahead of print]146(1-2): 109213
      Pathogenic variants in POLG are involved in a large spectrum of neurological, gastrointestinal and liver impairments. Children affected with POLG-related disorders rarely exhibit peripheral neuropathy, the latter being most often described in adults as axonal polyneuropathy. Our aim was to focus on electrophysiological findings in young children affected with POLG-related disorder. We report herein 6 unrelated early-onset POLG patients presenting with an atypical and severe polyradiculoneuropathy mimicking Chronic Inflammatory Demyelinating Polyneuropathy (CIDP). All these patients also exhibited severe intestinal dysmotility and liver disease. Different compound heterozygous pathogenic variants in POLG were found and 4/6 patients shared the same heterozygous R232H variation. POLG-related disorders should therefore be considered in the setting of atypical childhood onset CIDP with gastrointestinal and liver impairments.
    Keywords:  CIDP; POLG; chronic inflammatory demyelinating polyneuropathy; mitochondria; mitochondrial disorders
    DOI:  https://doi.org/10.1016/j.ymgme.2025.109213
  18. Research (Wash D C). 2025 ;8 0816
      Mitochondria are highly dynamic organelles that are responsible for essential cellular functions such as calcium regulation, reactive oxygen species (ROS) production, metabolism, and apoptosis initiation. Mitochondrial dysfunctions are associated with a variety of pathologies, and the onset and progression of disease are accompanied by alterations in extracellular biochemical and mechanical signals. Recent studies have demonstrated that physicochemical cues, especially mechanical cues, exert pivotal roles in the organization of mitochondrial network and their metabolic functions. Therefore, understanding the mechanisms that orchestrate mitochondrial morphology and function is essential for elucidating their role in both health and disease. This review discusses novel insights into the recent advances regarding mitochondrial dysfunction across a spectrum of diseases and describes the effect of various factors. It then highlights the recently discovered mechanisms, particularly those involving matrix mechanical cues and cellular mechanical cues, summarizing the multiple pathways of mechanotransduction, such as integrin, Piezo1/TRPV4, and YAP/TAZ signaling pathways. Last, the review explores the potential future directions, stressing that understanding mitochondrial dysfunction is crucial for developing effective therapies to improve mitochondrial function and address related diseases.
    DOI:  https://doi.org/10.34133/research.0816
  19. Science. 2025 Aug 14. 389(6761): 685-686
      Metabolic immunity contributes to cells' defenses against Toxoplasma gondii.
    DOI:  https://doi.org/10.1126/science.aea0875