This page is dedicated to sharing scientific research about Leigh syndrome and mitochondrial disease, as well as papers about data, data sharing, data standards, and papers on patient perspectives and experience.
Lina, Never forgotten, USA
This page is not meant to be a complete list of every published paper on mitochondrial disease – for that, you can check out PubMed, a database maintained by the United States National Library of Medicine (NLM) at the National Institutes of Health (NIH).
The papers listed here are those describing research we would like to highlight. If you know of a study or a paper that you think should be included here, please let us know. Your suggestions can help make our resource better and more useful for everyone interested in learning about mitochondrial diseases.
Papers & Resources
Leigh syndrome global patient registry: uniting patients and researchers worldwide
Zilber, S., Woleben, K., Johnson, S. C., Moura de Souza, C. F., Boyce, D., Freiert, K., Boggs, C., Messahel, S., Burnworth, M. J., Afolabi, T. M., & Kayani, S. (2023). Leigh syndrome global patient registry: uniting patients and researchers worldwide. Orphanet Journal of Rare Diseases, 18, Article 264. https://doi.org/10.1186/s13023-023-02886-0
Learn MoreInteroperability of Leigh Syndrome Patient Registry Data with Regulatory Submission Standards
Parag Shiralkar, Bakare, P., Woleben, K., Zilber, S., Parag Shiralkar, Bakare, P., Woleben, K., & Zilber, S. (2024). Interoperability of Leigh Syndrome Patient Registry Data with Regulatory Submission Standards. Journal of the Society for Clinical Data Management, 4(1). https://doi.org/10.47912/jscdm.244
Learn MoreTeamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome
Moreira, J. D., Smith, K. K., Zilber, S., Woleben, K., & Fetterman, J. L. (2023). Teamwork makes the dream work: Functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome. Orphanet Journal of Rare Diseases, 18(1), 71. https://doi.org/10.1186/s13023-023-02871-7
Learn MoreDisease models of Leigh syndrome: From yeast to organoids
Manzur, A. Y., Crivaro, V., Zucchini, F., del Carmen Menjivar, M., Freisinger, P., MacLeod, E., ... & Dionisi-Vici, C. (2024). Gaps in the management of patients with congenital disorders of glycosylation (CDG) across Europe: Results from a survey of professionals and families. Journal of Inherited Metabolic Disease. https://doi.org/10.1002/jimd.12804
Learn MoreCannabidiol ameliorates mitochondrial disease via PPARγ activation in preclinical models
Puighermanal, E., Luna-Sánchez, M., Gella, A. et al. Cannabidiol ameliorates mitochondrial disease via PPARγ activation in preclinical models. Nat Commun 15, 7730 (2024). https://doi.org/10.1038/s41467-024-51884-8
Learn MoreMitochondria transfer-based therapies reduce the morbidity and mortality of Leigh syndrome
Nakai, R., Varnum, S., Field, R.L. et al. Mitochondria transfer-based therapies reduce the morbidity and mortality of Leigh syndrome. Nat Metab (2024). https://doi.org/10.1038/s42255-024-01125-5
Learn MoreFetal and obstetrics manifestations of mitochondrial diseases
Alessia, A., Anastasia, G., Alessia, D.D. et al. Fetal and obstetrics manifestations of mitochondrial diseases. J Transl Med 22, 853 (2024). https://doi.org/10.1186/s12967-024-05633-6
Learn MoreLeigh syndrome global patient registry: uniting patients and researchers worldwide
Zilber, S., Woleben, K., Johnson, S. C., Moura de Souza, C. F., Boyce, D., Freiert, K., Boggs, C., Messahel, S., Burnworth, M. J., Afolabi, T. M., & Kayani, S. (2023). Leigh syndrome global patient registry: uniting patients and researchers worldwide. Orphanet Journal of Rare Diseases, 18, Article 264. https://doi.org/10.1186/s13023-023-02886-0
Learn MoreAAV-based in vivo gene therapy for neurological disorders
Ling, Q., Herstine, J. A., Bradbury, A., & Gray, S. J. (2023). AAV-based in vivo gene therapy for neurological disorders. Nature Reviews Drug Discovery, 22(9), 789-806. https://doi.org/10.1038/s41573-023-00766-7
Learn MoreNuclear DNA influences variation in mitochondrial DNA
DiCorato, A. (2023). Nuclear DNA influences variation in mitochondrial DNA. Broad Institute. Retrieved from https://www.broadinstitute.org/news/nuclear-dna-influences-variation-mitochondrial-dna
Learn MoreModeling mitochondrial DNA diseases: from base editing to pluripotent stem‐cell‐derived organoids
Tolle, I., Tiranti, V., & Alessandro Prigione. (2023). Modeling mitochondrial DNA diseases: from base editing to pluripotent stem‐cell‐derived organoids. EMBO Reports, 24(4). https://doi.org/10.15252/embr.202255678
Learn MoreGene Therapy for Mitochondrial Diseases: Current Status and Future Perspective
Di Donfrancesco, A., Massaro, G., Di Meo, I., Tiranti, V., Bottani, E., & Brunetti, D. (2022). Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective. Pharmaceutics, 14(6), 1287. https://doi.org/10.3390/pharmaceutics14061287
Learn MoreScientists Reach New Milestone in Mitochondrial Base Editing: TALEDs Induce A-to-G Substitutions in Mitochondrial DNA
Roberts, R. (2022). Scientists Reach New Milestone in Mitochondrial Base Editing: TALEDs Induce A-to-G Substitutions in Mitochondrial DNA. CRISPR Medicine News. Retrieved from https://crisprmedicinenews.com/news/scientists-reach-new-milestone-in-mitochondrial-base-editing-taleds-induce-a-to-g-substitutions-in/
Learn MoreGenetic testing for mitochondrial disease: the United Kingdom best practice guidelines
Mavraki, E., Labrum, R., Sergeant, K., Alston, C. L., Woodward, C., Smith, C., Knowles, C. V. Y., Patel, Y., Hodsdon, P., Baines, J. P., Blakely, E. L., Polke, J., Taylor, R. W., & Fratter, C. (2022). Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines. European Journal of Human Genetics, 31(2), 148–163. https://doi.org/10.1038/s41431-022-01249-w
Learn MoreLeigh syndrome
Rahman, S. Leigh syndrome. Handb. Clin. Neurol. 194, 43–63 (2023).
DOI: 10.1016/B978-0-12-821751-1.00015-4
Natural History of SURF1 Deficiency: A Retrospective Chart Review
Khan, T. R., Leprince, I., Messahel, S., Minassian, B. A., & Kayani, S. (2023). Natural History of SURF1 Deficiency: A Retrospective Chart Review. Pediatric Neurology, 140, 40-46. https://doi.org/10.1016/j.pediatrneurol.2022.12.002
Learn MoreRecent developments in mitochondrial medicine (Part 1)
Weissig, V., & Edeas, M. (2021). Recent developments in mitochondrial medicine (Part 1). 4open, 4, 2. https://doi.org/10.1051/fopen/2021002
Learn MoreRecent developments in mitochondrial medicine (Part 2)
Weissig, V., & Edeas, M. (2022). Recent developments in mitochondrial medicine (part 2). 4open, 5, 5. https://doi.org/10.1051/fopen/2022002
Learn MoreDrug Development for the Therapy of Mitochondrial Diseases
Weissig, V. (n.d.). Drug Development for the Therapy of Mitochondrial Diseases [Review of Drug Development for the Therapy of Mitochondrial Diseases]. Science Direct.
Learn MoreNuclear Gene-Encoded Leigh Syndrome Spectrum Overview
Rahman, S., & Thorburn, D. (1993). Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview (M. P. Adam, D. B. Everman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, L. J. Bean, K. W. Gripp, & A. Amemiya, Eds.). PubMed; University of Washington, Seattle. https://pubmed.ncbi.nlm.nih.gov/26425749/
Learn MoreMitochondrial DNA-Associated Leigh Syndrome and NARP
Thorburn, D. R., Rahman, J., & Rahman, S. (1993). Mitochondrial DNA-Associated Leigh Syndrome and NARP (M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. Bean, G. Mirzaa, & A. Amemiya, Eds.). PubMed; University of Washington, Seattle. https://pubmed.ncbi.nlm.nih.gov/20301352/
Learn MoreDefective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome
Inak, G., Rybak-Wolf, A., Lisowski, P., Pentimalli, T. M., Jüttner, R., Glažar, P., Uppal, K., Bottani, E., Brunetti, D., Secker, C., Zink, A., Meierhofer, D., Henke, M.-T., Dey, M., Ciptasari, U., Mlody, B., Hahn, T., Berruezo-Llacuna, M., Karaiskos, N., & Di Virgilio, M. (2021). Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome. Nature Communications, 12(1), 1929. https://doi.org/10.1038/s41467-021-22117-z
Learn MoreOn the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models
Walker, M. A., Miranda, M., Allred, A., & Mootha, V. K. (2022). On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models. Current Opinion in Neurobiology, 72, 80–90. https://doi.org/10.1016/j.conb.2021.09.006
Learn MoreAdeno-associated viral vector serotype 9-based gene replacement therapy for SURF1-related Leigh syndrome
Ling, Q., Rioux, M., Hu, Y., Lee, M., & Gray, S. J. (2021). Adeno-associated viral vector serotype 9-based gene replacement therapy for SURF1-related Leigh syndrome. Molecular Therapy - Methods & Clinical Development. https://doi.org/10.1016/j.omtm.2021.09.001
Learn MorePatient Care Standards for Primary Mitochondrial Disease
Patient. (2017). Patient Care Standards for Primary Mitochondrial Disease - GIM 2017.pdf. Google Docs. https://drive.google.com/file/d/0B2CWb9
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Learn MoreSafety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus
De Vries, M. C., Brown, D. A., Allen, M. E., Bindoff, L., Gorman, G. S., Karaa, A., Keshavan, N., Lamperti, C., McFarland, R., Ng, Y. S., O’Callaghan, M., Pitceathly, R. D. S., Rahman, S., Russel, F. G. M., Varhaug, K. N., Schirris, T. J. J., & Mancuso, M. (2020). Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus. Journal of Inherited Metabolic Disease, 43(4), 800–818. https://doi.org/10.1002/jimd.12196
Learn MoreExpert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum
McCormick, E., Keller, K., Taylor, J. P., Coffey, A. J., Shen, L., Krotoski, D., Harding, B., Augusto, C., Ardissone, A., Bai, R., Peixoto, I., Bertini, E., Bluske, K., Christodoulou, J., Clause, A., Copeland, W. C., Diaz, G. A., Diodato, D., Dulik, M. C., & Enns, G. (2023). Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum. Annals of Neurology, 94(4), 696–712. https://doi.org/10.1002/ana.26716
Learn MoreTeamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome
Moreira, J. D., Smith, K. K., Zilber, S., Woleben, K., & Fetterman, J. L. (2023). Teamwork makes the dream work: Functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome. Orphanet Journal of Rare Diseases, 18(1), 71. https://doi.org/10.1186/s13023-023-02871-7
Learn MoreBeing the other child - A systematic review on the quality of life and mental health of siblings of children with rare diseases
Boettcher, J., Kröger, F., Reinsberg, N., Wiegand-Grefe, S., & Zapf, H. (2024). Being the other child - A systematic review on the quality of life and mental health of siblings of children with rare diseases. Research in Developmental Disabilities, 155, 104868. https://doi.org/10.1016/j.ridd.2024.104868
Learn MoreWhat matters to parents? A scoping review of parents’ service experiences and needs regarding genetic testing for rare diseases
Crellin, E., Martyn, M., McClaren, B., & Gaff, C. (2023). What matters to parents? A scoping review of parents’ service experiences and needs regarding genetic testing for rare diseases. *European Journal of Human Genetics, 31*(6), 869-878. https://doi.org/10.1038/s41431-023-01376-y
Learn MorePatient-Partners as Educators: Vulnerability Related to Sharing of Lived Experience
Wang, L., Volgman, A. S., Clark, L. T., Carrillo, R. G., & Auseon, A. J. (2023). Social determinants of health and cardiovascular disease: Implications for diverse populations. JACC: Case Reports. https://doi.org/10.1177/23743735231183677
Learn MoreReflections on patient engagement by patient partners: how it can go wrong
Richards, D. P., Poirier, S., Mohabir, V., Proulx, L., Robins, S., & Smith, J. (2023). Reflections on patient engagement by patient partners: How it can go wrong. Research Involvement and Engagement, 9(41). https://doi.org/10.1186/s40900-023-00454-1
Learn MoreThe experience of parents of children with rare diseases when communicating with healthcare professionals: towards an integrative theory of trust
Richards, D. P., Jordan, I., Strasser, T., & editors (2019). The economic burden of rare diseases: The CORD survey. Orphanet Journal of Rare Diseases, 14(254). https://doi.org/10.1186/s13023-019-1134-1
Learn MoreHope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty
Nevin, S. M., Beavis, E., Macintosh, R., Palmer, E. E., Sachdev, R., Le Marne, F. A., Bye, A. M., & Nunn, K. (2023). Hope in the uncertainties and certainty for parents of children with complex medical conditions. Journal of Paediatrics and Child Health, 59(6), 743-750. https://doi.org/10.1111/jpc.16165
Learn MoreAsset-Based Health Care for Children With Severe Neurologic Impairment
Morris, E., Hauer, J., & Bogetz, J. F. (2022). Asset-Based Health Care for Children With Severe Neurologic Impairment. Pediatrics, 150(3), e2021055654. https://doi.org/10.1542/peds.2021-055654
Learn MoreInteroperability of Leigh Syndrome Patient Registry Data with Regulatory Submission Standards
Parag Shiralkar, Bakare, P., Woleben, K., Zilber, S., Parag Shiralkar, Bakare, P., Woleben, K., & Zilber, S. (2024). Interoperability of Leigh Syndrome Patient Registry Data with Regulatory Submission Standards. Journal of the Society for Clinical Data Management, 4(1). https://doi.org/10.47912/jscdm.244
Learn MoreSolving medical mysteries in the AWS Cloud: Medical data-sharing innovation through the Undiagnosed Diseases Network
Solving medical mysteries in the AWS Cloud: Medical data-sharing innovation through the Undiagnosed Diseases Network | Amazon Web Services. (2022, January 21). Amazon Web Services. https://aws.amazon.com/blogs/publicsector/solving-medical-mysteries-aws-cloud-medical-data-sharing-innovation-undiagnosed-diseases-network/
Learn MoreData silos are undermining drug development and failing rare disease patients
Denton, N., Molloy, M., Charleston, S., Lipset, C., Hirsch, J., Mulberg, A. E., Howard, P., & Marsh, E. D. (2021). Data silos are undermining drug development and failing rare disease patients. Orphanet Journal of Rare Diseases, 16(1). https://doi.org/10.1186/s13023-021-01806-4
Learn MoreRare Disease Cures Accelerator (RDCA-DAP)
Measuring the Impact of Data Sharing Platforms | Trusted Data Sharing Network | Digital Research Environment. (2020). Aridhia.com. https://www.aridhia.com/blog/measuring-the-impact-of-data-sharing-platforms/
Learn MoreUse of Clinical Data Interchange Standards Consortium (CDISC) Standards for Real-world Data: Expert Perspectives From a Qualitative Delphi Survey
Facile, R., Muhlbradt, E. E., Gong, M., Li, Q., Popat, V., Pétavy, F., Cornet, R., Ruan, Y., Koide, D., Saito, T. I., Hume, S., Rockhold, F., Bao, W., Dubman, S., & Wurst, B. J. (2022). Use of Clinical Data Interchange Standards Consortium (CDISC) Standards for Real-world Data: Expert Perspectives From a Qualitative Delphi Survey. JMIR Medical Informatics, 10(1), e30363. https://doi.org/10.2196/30363
Learn MoreMeasuring the Impact of Data Sharing Platforms
Measuring the Impact of Data Sharing Platforms | Trusted Data Sharing Network | Digital Research Environment. (2020). Aridhia.com. https://www.aridhia.com/blog/measuring-the-impact-of-data-sharing-platforms/
Learn MoreMitoCarta 3.0
MitoCarta3.0 is an inventory of 1136 human and 1140 mouse genes encoding proteins with strong support of mitochondrial localization, now with sub-mitochondrial compartment and pathway annotations.
Learn MoreLeigh Map
The Leigh Map is a gene-to-phenotype interaction network which can be used as a diagnostic resource for Leigh syndrome, in combination with genetic sequencing. The user interface of Leigh Map is similar to Google Maps, whereby the user can zoom in to view increasingly detailed components and query elements of the map.
Learn MoreInternational Classification of Inherited Metabolic Disorders (ICIMD)
ICIMD is a hierarchical, group-based collation of all currently known inherited metabolic disorders. It aims to facilitate an improved understanding of the interconnections between conditions that share functional, clinical and diagnostic features.
Learn MoreVolume 1: Targeting Mitochondria
Volkmar Weissig, & Edeas, M. (2021). Mitochondrial Medicine. In Methods in molecular biology. Springer Science+Business Media. https://doi.org/10.1007/978-1-0716-1262-0
Learn MoreVolume 2: Assessing Mitochondria
Volkmar Weissig, & Edeas, M. (2021). Mitochondrial Medicine. In Methods in molecular biology. Springer Science+Business Media. https://doi.org/10.1007/978-1-0716-1266-8
Learn MoreVolume 3: Manipulating Mitochondria and Disease- Specific Approaches
Volkmar Weissig, & Edeas, M. (2021). Mitochondrial Medicine. In Methods in molecular biology. Springer Science+Business Media. https://doi.org/10.1007/978-1-0716-1270-5
Learn More