ArticleCell metabolism2019
Mitochondrial DNA Variation Dictates Expressivity and Progression of Nuclear DNA Mutations Causing Cardiomyopathy.
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Article in Cell metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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53citing papers in PubMed
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Who cites it
53 citing papers in PubMed, 79 citations in OpenAlex.
- Targeting mtDNA to Modulate Mitochondrial Dysfunction in Neurodegenerative Diseases.Molecular neurobiology · 2026Review
- Mitochondrial cardiomyopathy: bridging molecular mechanisms and clinical frontiers.Nature reviews. Cardiology · 2026Review
- A scalable embryonic stem cell-based platform for efficient generation of mitochondrial DNA mutant mice.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Deficient mitochondrial tRNA modifications arising from TRMU mutation led to the liver-specific failure.The Journal of biological chemistry · 2026Article
- The succinate prodrug NV354 prevents brain lesions and late-stage motor dysfunction in mitochondrial complex I deficiency.iScience · 2026Article
- Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.Brain : a journal of neurology · 2026Article
- Single-Cell Genomics and Somatic Variation in Circulating and Cardiac Resident Cells.Circulation research · 2026Review
- Partial restoration of mitochondrial dysfunction by AAV-Ant1 protects from dilated cardiomyopathy in Ant1Nature communications · 2025Article
- A systems genetics approach to uncover mitochondrial drivers of heart failure reveals mitochondria-nuclear cross talk in genetically diverse mouse strains.bioRxiv : the preprint server for biology · 2025Article
- Mitochondrial Genome Variants and Nuclear Mitochondrial DNA Segments in 7331 Individuals from NyuWa and 1KGP.Genomics, proteomics & bioinformatics · 2025Article
- Mitochondria reactive oxygen species signaling-dependent immune responses in macrophages and T cells.Immunity · 2025Review
- Vitamin A treatment restores vision failures arising from Leber's hereditary optic neuropathy-linked mtDNA mutation.JCI insight · 2025Article
- Pro-inflammatory macrophages produce mitochondria-derived superoxide by reverse electron transport at complex I that regulates IL-1β release during NLRP3 inflammasome activation.Nature metabolism · 2025Article
- Mitochondrial complex-1 as a therapeutic target for cardiac diseases.Molecular and cellular biochemistry · 2025Review
- Cardiac and Digestive Forms of Chagas Disease: An Update on Pathogenesis, Genetics, and Therapeutic Targets.Mediators of inflammation · 2025Review
- The multifaceted role of mitochondria in cardiac function: insights and approaches.Cell communication and signaling : CCS · 2024Review
- Effect of dimethyl fumarate on mitochondrial metabolism in a pediatric porcine model of asphyxia-induced in-hospital cardiac arrest.Scientific reports · 2024Article
- Deficient tRNA posttranscription modification dysregulated the mitochondrial quality controls and apoptosis.iScience · 2024Article
- Identification of a Novel Mitochondrial tRNA Mutation in Chinese Family with Type 2 Diabetes Mellitus.Pharmacogenomics and personalized medicine · 2024Article
- Analyzing the cellular and molecular atlas of ovarian mesenchymal cells provides a strategy against female reproductive aging.Science China. Life sciences · 2023Article
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Authors and funding
14 authors at 3 institutions in 1 country.
Meagan J McManusCenter for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA.
Martin PicardCenter for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA; Departments of Psychiatry and Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Hsiao-Wen ChenCenter for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA.
Hans J De HaasDepartment of Medicine, Mount Sinai Hospital, New York, NY 10029, USA.
Prasanth PotluriCenter for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA.
Jeremy LeipzigCenter for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA.
Atif TowheedCenter for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA.
Alessia AngelinCenter for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA.
Partho SenguptaDepartment of Medicine, Mount Sinai Hospital, New York, NY 10029, USA.
Ryan M MorrowCenter for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA.
Brett A KauffmanVascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA 15261, USA.
Marc VermulstCenter for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA.
Jagat NarulaDepartment of Medicine, Mount Sinai Hospital, New York, NY 10029, USA.
Douglas C WallaceCenter for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia and University of Pennsylvania, Colket Translational Research Building, Room 6060, 3501 Civic Center Boulevard, Philadelphia, PA 19104-4302, USA; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: wallaced1@email.chop.edu.
Children's Hospital of Philadelphia · USMount Sinai Hospital · USUniversity of Pittsburgh · US
Funding
MITOCHONDRIAL INBORN ERRORS OF METABOLISMR01NS021328 · NINDS · UNIVERSITY OF CALIFORNIA-IRVINE · PI WALLACE, DOUGLAS C · 1985 to 2017
$6.5MA MITOCHONDRIAL-INTERNEURONAL HYPOTHESIS OF AUTISMR01MH108592 · NIMH · CHILDREN'S HOSP OF PHILADELPHIA · PI WALLACE, DOUGLAS C · 2016 to 2020
$3.1MMouse models for mitochondrial disorders caused by mutations in mtDNAR01OD010944 · OD · UNIVERSITY OF SOUTH ALABAMA · PI ALEXEYEV, MIKHAIL F., WALLACE, DOUGLAS C · 2012 to 2020
$2.6MANT Defects in Neurodegenerative DiseasesR01NS041850 · NINDS · UNIVERSITY OF CALIFORNIA IRVINE · PI WALLACE, DOUGLAS C · 2001 to 2005
$1.4MTargeting the IGF-1/insulin signaling pathway to treat mtDNA diseaseR01GM124532 · NIGMS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI VERMULST, MARC · 2017 to 2020
$1.2MNIGMS NIH HHS R01 GM124532NIH HHS R01 OD010944NIMH NIH HHS R01 MH108592NINDS NIH HHS R01 NS021328NINDS NIH HHS R01 NS041850
Abstract
Nuclear-encoded mutations causing metabolic and degenerative diseases have highly variable expressivity. Patients sharing the homozygous mutation (c.523delC) in the adenine nucleotide translocator 1 gene (SLC25A4, ANT1) develop cardiomyopathy that varies from slowly progressive to fulminant. This variability correlates with the mitochondrial DNA (mtDNA) lineage. To confirm that mtDNA variants can modulate the expressivity of nuclear DNA (nDNA)-encoded diseases, we combined in mice the nDNA Slc25a4
Indexed as
AnimalsCardiomyopathiesDisease Models, AnimalDNA, MitochondrialElectron Transport Complex IMiceMice, Inbred C57BLMitochondriaMutationDNA, MitochondrialElectron Transport Complex Iadenine nucleotide translocatoragingcardiomyopathycomplex Icomplex IVF(1)F(o)-ATPasemitochondrial DNAmitochondrial-nuclear interactionmtDNA instabilityOPA1
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