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Scientific Papers

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

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Interoperability 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

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Teamwork 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

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Disease 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

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Cannabidiol 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

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Mitochondria 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

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Fetal 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

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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

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AAV-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

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Nuclear 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

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Modeling 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

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Gene 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

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Scientists 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/

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Genetic 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

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Leigh syndrome

Rahman, S. Leigh syndrome. Handb. Clin. Neurol. 194, 43–63 (2023).
DOI: 10.1016/B978-0-12-821751-1.00015-4

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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

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Recent 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

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Recent 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

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Drug 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.

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Nuclear 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/

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Mitochondrial 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/

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Defective 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

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On 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

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Adeno-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

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Patient 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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Safety 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

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Expert 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

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Teamwork 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

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Being 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

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What 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

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Patient-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

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Reflections 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

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The 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

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Hope 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

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Asset-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

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Interoperability 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

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Solving 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/

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Data 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

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Rare 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/

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Use 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

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Measuring 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/

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MitoCarta 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.

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Leigh 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.

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International 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.

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Volume 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

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Volume 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

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Volume 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

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