Human mitochondrial DNA: roles of inherited and somatic mutations

Sequence and organization of the human mitochondrial genome

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Mitochondrial DNA and human evolution

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Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-α prolyl hydroxylase

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On the origin of mitosing cells

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Human Cells Lacking mtDNA: Repopulation with Exogenous Mitochondria by Complementation

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Mitochondrial Respiratory-Chain Diseases

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Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

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High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

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A deafness-associated mitochondrial DNA mutation caused pleiotropic effects on DNA replication and tRNA metabolism

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The Emerging Role of Mitochondrial Dysfunction in the Pathogenesis of Idiopathic Inflammatory Myopathies

González-Chapa, J. A., Macêdo, M. B., & Lood, C. (2023) · Rambam Maimonides Medical Journal · doi:10.5041/rmmj.10493 · Cited by 25

Mitochondrial DNA is a target of HBV integration

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IL-4 Protects the Mitochondria Against TNFα and IFNγ Induced Insult During Clearance of Infection with Citrobacter rodentium and Escherichia coli

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RNA-Mediated Disease Mechanisms in Neurodegenerative Disorders

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Alignment-free approaches for predicting novel Nuclear Mitochondrial Segments (NUMTs) in the human genome

Li, W., Freudenberg, J., & Freudenberg, J. (2019) · Gene · doi:10.1016/j.gene.2018.12.040 · Cited by 25

Toxicological assessment of multi-walled carbon nanotubesin vitro: potential mitochondria effects on male reproductive cells

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Mitochondrial endogenous substance transport-inspired nanomaterials for mitochondria-targeted gene delivery

Wang, Y., Yang, J.-S., Zhao, M., Chen, J., Xie, H.-X., Yu, H., Liu, N.-H., Yi, Z.-J., Liang, H., Xing, L., et al. (2024) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2024.115355 · Cited by 26

Connecting the Dots: Mitochondrial Dysfunction, PCOS, and Insulin Resistance—Insights and Therapeutic Advances

Tharayil, S. P., & Shukla, P. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26136233 · Cited by 29

Prevalence of neoplasms in definite and probable mitochondrial disorders

Finsterer, J., & Frank, M. (2016) · Mitochondrion · doi:10.1016/j.mito.2016.05.002 · Cited by 25

Cancer‐induced cardiac atrophy adversely affects myocardial redox state and mitochondrial oxidative characteristics

Lee, D. E., Brown, J. L., Rosa‐Caldwell, M. E., Perry, R. A., Brown, L. A., Haynie, W. S., Washington, T. A., Wiggs, M. P., Rajaram, N., & Greene, N. P. (2020) · JCSM Rapid Communications · doi:10.1002/rco2.18 · Cited by 24

Systematic analysis of nuclear gene function in respiratory growth and expression of the mitochondrial genome in S. cerevisiae

Stenger, M., Le, D. T., Klecker, T., & Westermann, B. (2020) · Microbial Cell · doi:10.15698/mic2020.09.729 · Cited by 27

Sonlicromanol improves neuronal network dysfunction and transcriptome changes linked to m.3243A>G heteroplasmy in iPSC-derived neurons

Gunnewiek, T. M. K., Verboven, A. H. A., Pelgrim, I., Hogeweg, M., Schoenmaker, C., Renkema, G. H., Beyrath, J., Smeitink, J. A. M., Vries, B. B. A. D., Hoen, P. A. C. ’., et al. (2021) · Stem Cell Reports · doi:10.1016/j.stemcr.2021.07.002 · Cited by 24

Identification of Somatic Mutations From Bulk and Single-Cell Sequencing Data

Huang, A. Y., & Lee, E. A. (2022) · Frontiers in Aging · doi:10.3389/fragi.2021.800380 · Cited by 25

Variation in mitochondrial DNA affects locomotor activity and sleep in Drosophila melanogaster

Anderson, L. G., Camus, M. F., Monteith, K. M., Salminen, T. S., & Vale, P. F. (2022) · Heredity · doi:10.1038/s41437-022-00554-w · Cited by 24

Follicular fluid steroid and gonadotropic hormone levels and mitochondrial function from exosomes predict embryonic development

Yu, L., Liu, M., Xu, S., Wang, Z., Liu, T., Zhou, J., Zhang, D., Dong, X., Pan, B., Wang, B., et al. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.1025523 · Cited by 24

Cardiac Involvement in Mitochondrial Disorders

Popoiu, T.-A., Dudek, J., Maack, C., & Bertero, E. (2023) · Current Heart Failure Reports · doi:10.1007/s11897-023-00592-3 · Cited by 29

Mitochondrial retinopathies and optic neuropathies: The impact of retinal imaging on modern understanding of pathogenesis, diagnosis, and management

Borrelli, E., Bandello, F. M., Boon, C. J. F., Carelli, V., Lenaers, G., Reibaldi, M., Sadda, S. R., Sadun, A. A., Sarraf, D., Yu‐Wai‐Man, P., et al. (2024) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2024.101264 · Cited by 25

Polar Bodies in Assisted Reproductive Technology: Current Progress and Future Perspectives1

Wei, Y., Zhang, T., Wang, Y., Schatten, H., & Sun, Q. (2014) · Biology of Reproduction · doi:10.1095/biolreprod.114.125575 · Cited by 24

Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation

Fang, H., Shi, H. S., Li, X., Sun, D., Li, F., Li, B., Ding, Y., Ma, Y., Liu, Y., Zhang, Y., et al. (2015) · Scientific Reports · doi:10.1038/srep10480 · Cited by 22

Increased blood lactate levels during exercise and mitochondrial DNA alterations converge on mitochondrial dysfunction in schizophrenia

Valiente-Pallejà, A., Torrell-Galceran, H., Alonso, Y., Vilella, E., Muntané, G., & Martorell, L. (2020) · Schizophrenia Research · doi:10.1016/j.schres.2020.03.070 · Cited by 29

Respiratory chain dysfunction in perifascicular muscle fibres in patients with dermatomyositis is associated with mitochondrial DNA depletion

Hedberg‐Oldfors, C., Lindgren, U., Visuttijai, K., Lööf, D., Roos, S., Thomsen, C., & Oldfors, A. (2022) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12841 · Cited by 23

A magic bullet to specifically eliminate mutated mitochondrial genomes from patients' cells

Moraes, C. T. (2014) · EMBO Molecular Medicine · doi:10.1002/emmm.201303769 · Cited by 23

Role of mitochondrial DNA mutations in brain tumors

Yusoff, A. A. M. (2015) · Journal of Cancer Research and Therapeutics · doi:10.4103/0973-1482.161925 · Cited by 23

Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy

Engelstad, K., Sklerov, M., Kriger, J., Sanford, A. R., Grier, J., Ash, D., Egli, D. M., DiMauro, S., Thompson, J. L. P., Sauer, M. V., et al. (2016) · Human Reproduction · doi:10.1093/humrep/dew033 · Cited by 23

Proteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy

Murgia, M., Tan, J., Geyer, P. E., Doll, S., Mann, M., & Klopstock, T. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.11.055 · Cited by 23

Genetic variation and DNA markers in forensic analysis

Imad, H. H., Mohammed, A. J., Ommer, A. J., Cheah, Y. K., Haider, K. Z., Ali, H. A.-S., & Muataz, A. A. (2014) · AFRICAN JOURNAL OF BIOTECHNOLOGY · doi:10.5897/ajb2013.13160 · Cited by 22

Mitochondrially-Targeted Therapeutic Strategies for Alzheimer’s Disease

Onyango, I. G., Bennett, J. P., & Stokin, G. B. (2021) · Current Alzheimer Research · doi:10.2174/1567205018666211208125855 · Cited by 22

Next-generation sequencing of the whole mitochondrial genome identifies functionally deleterious mutations in patients with multiple sclerosis

Al‐Kafaji, G., Bakheit, H. F., Alali, F., Fattah, M., Alhajeri, S., Alharbi, M. A., Daif, A., Alsabbagh, M. M., Alwehaidah, M. S., & Bakhiet, M. (2022) · PLoS ONE · doi:10.1371/journal.pone.0263606 · Cited by 22

Quantitative haplotype-resolved analysis of mitochondrial DNA heteroplasmy in Human single oocytes, blastoids, and pluripotent stem cells

Bi, C., Wang, L., Fan, Y., Yuan, B., Alsolami, S. M., Zhang, Y., Zhang, P.-Y., Huang, Y., Yu, Y., Belmonte, J. C. I., et al. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkad209 · Cited by 21

mitoTALEN reduces the mutant mtDNA load in neurons

Bacman, S. R., Barrera-Paez, J. D., Pinto, M., Booven, D. V., Stewart, J. B., Griswold, A. J., & Moraes, C. T. (2024) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2024.102132 · Cited by 22

Crosstalk between mitochondrial stress signals regulates yeast chronological lifespan

Schroeder, E. A., & Shadel, G. S. (2013) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2013.12.002 · Cited by 22

Mitochondrial dysfunction and risk of cancer

Lund, M., Melbye, M., Díaz, L. J., Dunø, M., Wohlfahrt, J., & Vissing, J. (2015) · British Journal of Cancer · doi:10.1038/bjc.2015.66 · Cited by 22

Sphingolipids and mitochondrial function, lessons learned from yeast

Spincemaille, P., Cammue, B. P. A., & Thevissen, K. (2014) · Microbial Cell · doi:10.15698/mic2014.07.156 · Cited by 23

Genetic drift or natural selection? Hybridization and asymmetric mitochondrial introgression in two C aribbean lizards ( A nolis pulchellusandAnolis krugi)

Ježková, T., Leal, M., & Rodríguez‐Robles, J. A. (2013) · Journal of Evolutionary Biology · doi:10.1111/jeb.12149 · Cited by 21

Investigating the importance of individual mitochondrial genotype in susceptibility to drug-induced toxicity

Penman, S. L., Carter, A. S., & Chadwick, A. E. (2020) · Biochemical Society Transactions · doi:10.1042/bst20190233 · Cited by 22

Mitochondrial Dysfunction in Cardiac Disease: The Fort Fell

PARASKEVAIDIS, I. A., Kourek, C., Farmakis, D. T., & Tsougos, E. (2024) · Biomolecules · doi:10.3390/biom14121534 · Cited by 22

Mitochondrial Dysfunction in Children with Hepatic Forms of Glycogen Storage Disease

Курбатова, О. В., Izmailova, T. D., Surkov, A. N., Namazova-Baranova, L. S., Polyakova, S. I., Miroshkina, L. V., Semenova, G. F., Самохина, И. В., Kapustiuna, E. Y., Zn, D., et al. (2014) · Annals of the Russian academy of medical sciences · doi:10.15690/vramn.v69i7-8.1112 · Cited by 21

Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia

Nolte, D., Kang, J., Hofmann, A., Schwaab, E., Krämer, H. H., & Müller, U. (2021) · Journal of Neurology · doi:10.1007/s00415-021-10607-5 · Cited by 21

Analysis of mitochondrial DNA cytochrome‐b (CYB) and ATPase‐6 gene mutations in COVID‐19 patients

Dirican, E., Savrun, Ş. T., Aydın, İ. E., Gülbay, G., & Karaman, Ü. (2022) · Journal of Medical Virology · doi:10.1002/jmv.27704 · Cited by 20

Early onset cardiomyopathy associated with the mitochondrial tRNALeu(UUR) 3271T>C MELAS mutation

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Contribution of non‐reference alleles in mt DNA of Alzheimer's disease patients

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MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations

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Codon optimization is an essential parameter for the efficient allotopic expression of mtDNA genes

Lewis, C. J., Dixit, B., Batiuk, E., Hall, C. J., O'Connor, M. S., & Boominathan, A. (2020) · Redox Biology · doi:10.1016/j.redox.2020.101429 · Cited by 20

ATAD3B and SKIL polymorphisms associated with antipsychotic-induced QTc interval change in patients with schizophrenia: a genome-wide association study

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Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight

Mertens, J., Belva, F., van Montfoort, A. P. A., Regin, M., Zambelli, F., Seneca, S., de Deckersberg, E. C., Bonduelle, M., Tournaye, H. J., Stouffs, K., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-45446-1 · Cited by 21

Preventing Mitochondrial Diseases: Embryo-Sparing Donor-Independent Options

Adashi, E. Y., & Cohen, I. G. (2018) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2018.03.002 · Cited by 20

Mitochondrial genomic variation drives differential nuclear gene expression in discrete regions of Drosophila gene and protein interaction networks

Mossman, J. A., Biancani, L. M., & Rand, D. M. (2019) · BMC Genomics · doi:10.1186/s12864-019-6061-y · Cited by 20

Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders

Mahmud, S., Biswas, S., Afrose, S., Mita, M. A., Hasan, M. K., Shimu, M. S. S., Paul, G. K., Chung, S., Saleh, M. A., Alshehri, S., et al. (2022) · Current Issues in Molecular Biology · doi:10.3390/cimb44030074 · Cited by 23

Oxyphil Cell Metaplasia in the Parathyroids Is Characterized by Somatic Mitochondrial DNA Mutations in NADH Dehydrogenase Genes and Cytochrome c Oxidase Activity–Impairing Genes

Müller‐Höcker, J., Schäfer, S., Krebs, S., Blum, H., Zsurka, G., Kunz, W. S., Prokisch, H., Seibel, P., & Jung, A. (2014) · American Journal Of Pathology · doi:10.1016/j.ajpath.2014.07.015 · Cited by 20

Mitochondrial DNA in Human Diversity and Health: From the Golden Age to the Omics Era

Hernández, C. L. (2023) · Genes · doi:10.3390/genes14081534 · Cited by 21

Pathophysiological implications of mitochondrial oxidative stress mediated by mitochondriotropic agents and polyamines: the role of tyrosine phosphorylation

Grancara, S., Zonta, F., Ohkubo, S., Brunati, A. M., Agostinelli, E., & Toninello, A. (2015) · Amino Acids · doi:10.1007/s00726-015-1964-7 · Cited by 19

Estimating relative mitochondrial DNA copy number using high throughput sequencing data

Zhang, P., Lehmann, B. D., Samuels, D. C., Zhao, S., Zhao, Y., Shyr, Y., & Guo, Y. P. (2017) · Genomics · doi:10.1016/j.ygeno.2017.07.002 · Cited by 19

Mitochondrial DNA copy number is associated with risk of head and neck squamous cell carcinoma in Chinese population

Wang, L., Lv, H., Ji, P., Zhu, X., Yuan, H., Jin, G., Dai, J., Hu, Z., Su, Y., & Ma, H. (2018) · Cancer Medicine · doi:10.1002/cam4.1452 · Cited by 19

Mitochondria and Their Role in Human Reproduction

Zou, W., Slone, J. D., Cao, Y., & Huang, T. (2019) · DNA and Cell Biology · doi:10.1089/dna.2019.4807 · Cited by 19

The Mitochondrial Genome

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Mitochondrial DNA copy number in peripheral blood leukocytes is associated with biochemical recurrence in prostate cancer patients in African Americans

Xu, J., CHANG, W.-S., Tsai, C.-W., Bau, D., Davis, J. W., Thompson, T. C., Logothetis, C. J., & Gu, J. H. (2019) · Carcinogenesis · doi:10.1093/carcin/bgz139 · Cited by 18

Stable retention of chloramphenicol-resistant mtDNA to rescue metabolically impaired cells

Dawson, E. R., Patananan, A. N., Sercel, A. J., & Teitell, M. A. (2020) · Scientific Reports · doi:10.1038/s41598-020-71199-0 · Cited by 18

Mitophagy pathways and Alzheimer's disease: From pathogenesis to treatment

Pan, X.-J., Misrani, A., Tabassum, S., & Yang, L. (2021) · Mitochondrion · doi:10.1016/j.mito.2021.04.007 · Cited by 18

Nuclear and Mitochondrial Genome, Epigenome and Gut Microbiome: Emerging Molecular Biomarkers for Parkinson’s Disease

Cabral, G. F., Schaan, A. P., Cavalcante, G. C., Sena-dos-Santos, C., de Souza, T. P., Port’s, N. M. D. S., Pinheiro, J. A. D. S., Ribeiro‐dos‐Santos, Â., & Vidal, A. F. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22189839 · Cited by 18

Aberrant RNA processing contributes to the pathogenesis of mitochondrial diseases in trans-mitochondrial mouse model carrying mitochondrial tRNALeu(UUR) with a pathogenic A2748G mutation

Tani, H., Ishikawa, K., Tamashiro, H., Ogasawara, E., Yasukawa, T., Matsuda, S., Shimizu, A., Kang, D., Hayashi, J., Wei, F., et al. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac699 · Cited by 20

Vitiligo auto‐immune response upon oxidative stress‐related mitochondrial DNA release opens up new therapeutic strategies

Silva, A. C. B. S., Botton, T., Rossi, A., Dobner, J., Bzioueche, H., Nguyen, T. N., Blot, L., Pagnotta, S., Kleszczyński, K., Steinbrink, K., et al. (2024) · Clinical and Translational Medicine · doi:10.1002/ctm2.1810 · Cited by 18

Strategies for treating mitochondrial disorders: An update

Scarpelli, M., Todeschini, A., Rinaldi, F., Rota, S., Padovani, A., & Filosto, M. (2014) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2014.09.013 · Cited by 19

Cardiac and placental mitochondrial characterization in a rabbit model of intrauterine growth restriction

Guitart‐Mampel, M., González-Tendero, A., Niñerola, S., Morén, C., Catalán‐García, M., González‐Casacuberta, I., Juárez‐Flores, D. L., Ugarteburu, O., Matalonga, L., Cascajo, M. V., et al. (2018) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2018.02.006 · Cited by 18

Track-structure simulations of energy deposition patterns to mitochondria and damage to their DNA

Friedland, W., Schmitt, E., Kundrát, P., Baiocco, G., & Ottolenghi, A. (2018) · International Journal of Radiation Biology · doi:10.1080/09553002.2018.1450532 · Cited by 18

Mitochondrial Genome Variation Affects Multiple Respiration and Nonrespiration Phenotypes in Saccharomyces cerevisiae

Vijayraghavan, S., Kozmin, S. G., Strope, P. K., Skelly, D. A., Lin, Z., Kennell, J. C., Magwene, P. M., Dietrich, F. S., & McCusker, J. H. (2018) · Genetics · doi:10.1534/genetics.118.301546 · Cited by 18

Deciphering the Spectrum of Mitochondrial DNA Mutations in Hepatocellular Carcinoma Using High-Throughput Sequencing

Yu, C. J., Wang, X., Huang, L., Tong, Y., Chen, L., Wu, H., Xia, Q., & Kong, X. (2018) · Gene Expression · doi:10.3727/105221618x15185539348147 · Cited by 18

Roles of the mitochondrial replisome in mitochondrial DNA deletion formation

Oliveira, M. T., Pontes, C. D. B., & Ciesielski, G. L. (2020) · Genetics and Molecular Biology · doi:10.1590/1678-4685-gmb-2019-0069 · Cited by 18

Mitochondrial DNA: a molecular switch driving sterile neuroinflammation

Jauhari, A., Singh, T., Carlisle, D. L., & Friedlander, R. M. (2026) · Translational Neurodegeneration · doi:10.1186/s40035-026-00540-w · Cited by 20

Codon usage and expression level of human mitochondrial 13 protein coding genes across six continents

Chakraborty, S., Uddin, A., Mazumder, T. H., Choudhury, M. N., Malakar, A. K., Paul, P., Halder, B., Deka, H., Mazumder, G. A., Barbhuiya, R. I., et al. (2017) · Mitochondrion · doi:10.1016/j.mito.2017.11.006 · Cited by 17

Profiling of genomic alterations of mitochondrial DNA in gingivobuccal oral squamous cell carcinoma: Implications for disease progress

Palodhi, A., Ghosh, S., Biswas, N. K., Basu, A., Majumder, P. P., & Maitra, A. (2018) · Mitochondrion · doi:10.1016/j.mito.2018.09.006 · Cited by 17

Cerebellar mitochondrial dysfunction and concomitant multi-system fatty acid oxidation defects are sufficient to discriminate PTSD-like and resilient male mice

Preston, G. J., Emmerzaal, T. L., Kirdar, F., Schrader, L. A., Henckens, M. J. A. G., Morava, É., & Kozicz, T. (2020) · Brain Behavior & Immunity - Health · doi:10.1016/j.bbih.2020.100104 · Cited by 20

Mitochondrial DNA copy number dynamics and associations with the prenatal environment from birth through adolescence in a population of Dominican and African American children

Kupsco, A. J., Bloomquist, T. R., Hu, H., Reddam, A., Tang, D. L., Goldsmith, J., Rundle, A., Baccarelli, A., & Herbstman, J. B. (2023) · Mitochondrion · doi:10.1016/j.mito.2023.02.008 · Cited by 17

Aryl hydrocarbon receptor: Linking environment to aging process in elderly patients with asthma

Yang, T., Wan, R., Tu, W., Avvaru, S. N., & Gao, P. (2024) · Chinese Medical Journal · doi:10.1097/cm9.0000000000002960 · Cited by 18

Effects of Partial Inhibition of Respiratory Complex I on H2O2 Production by Isolated Brain Mitochondria in Different Respiratory States

Michelini, L. G. B., Benevento, C. E., Rossato, F. A., Siqueira‐Santos, E. S., & Castilho, R. F. (2014) · Neurochemical Research · doi:10.1007/s11064-014-1446-4 · Cited by 19

Increased mitochondrial DNA deletions and copy number in transfusion-dependent thalassemia

Lal, A., Gomez, E., & Calloway, C. (2016) · JCI Insight · doi:10.1172/jci.insight.88150 · Cited by 17

The role of the reprogramming method and pluripotency state in gamete differentiation from patient-specific human pluripotent stem cells

Mishra, S., Kaçin, E., Stamatiadis, P., Franck, S., der Jeught, M. V., Mertes, H., Pennings, G., Sutter, P. D., Sermon, K., Heindryckx, B., et al. (2018) · Molecular Human Reproduction · doi:10.1093/molehr/gay007 · Cited by 18

The nuclear background influences the penetrance of the near-homoplasmic m.1630 A > G MELAS variant in a symptomatic proband and asymptomatic mother

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An innovative data analysis strategy for accurate next-generation sequencing detection of tumor mitochondrial DNA mutations

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