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Resources for Researchers

Animal models, fibroblasts, and other bio samples that are instrumental for conducting research on Leigh syndrome. We strongly encourage researchers to utilize this information to propel their studies and deepen our understanding of Leigh syndrome.

Some of the resources listed on this page are funded by Cure Mito, while others are not. Our aim is to provide researchers with access to as comprehensive a range of resources as possible. If you are aware of any resources not currently included here, please contact us at info@curemito.org so we can add them.

Research projects spearheaded by Cure Mito are made possible through the generous donations of patient families. We invite all interested families to get in touch and explore how they can contribute and get involved.

Fibroblasts, DNA, iPSCs - Coriell repository

SURF1 and ECHS1, can be requested from Coriell

SURF1ECHS1

Blood samples

Cure Mito is collaborating with Combined Brain to create a biorepository of blood samples for all mutations of Leigh syndrome. More information is coming soon!

Zebrafish

SURF1, can be requested from ZFIN

SURF1 zebrafish

References:

Sharma S, et al. Novel MRI Development to Quantify Organ Growth in Zebrafish. Zebrafish. 2024 Feb;21(1):28-38. doi: 10.1089/zeb.2023.0018. Epub 2023 Aug 21. PMID: 37603286; PMCID: PMC10886421.

Haroon S, et al. N-acetylcysteine and Cysteamine Prevent Azide-Induced Neuromuscular Decompensation in Zebrafish Leigh Syndrome Models. Hum Mol Genet. 2023 Jun 15;32(12):1988–2004. doi: 10.1093/hmg/ddad031.

Mouse

MT-ATP6

Mouse model is available from the Mitochondrial Genetics Laboratory at the MRC Mitochondrial Biology Unit, University of Cambridge.

Brain organoids, iPSCs, Yeast models

References:

Heiduschka S, Prigione A. iPSC models of mitochondrial diseases. Neurobiol Dis. 2025 Jan 31;207:106822. doi: 10.1016/j.nbd.2025.106822. Epub ahead of print. PMID: 39892770.

Henke MT, Prigione A, Schuelke M. Disease models of Leigh syndrome: From yeast to organoids. J Inherit Metab Dis. 2024 Nov;47(6):1292-1321. doi: 10.1002/jimd.12804. Epub 2024 Oct 9. PMID: 39385390; PMCID: PMC11586605.

Rat

SURF1, Knockout

Cure Mito funded the development of a SURF1 KO rat model with UT Southwestern. It is currently under characterization. Findings to come.

Yeast models

Cure Mito is collaborating with Perlara on yeast-powered drug repurposing screens for SURF1 Leigh Syndrome

Learn more

Mouse

SURF1, Knockout

References:

Ling Q, et al. Adeno-associated viral vector serotype 9-based gene replacement therapy for SURF1-related Leigh syndrome. Mol Ther Methods Clin Dev. 2021;23:158-168. doi: 10.1016/j.omtm.2021.09.001. PMID: 34703839; PMCID: PMC8517205.

Dell'agnello C, et al. Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice. Hum Mol Genet. 2007;16(4):431-44. doi: 10.1093/hmg/ddl477. PMID: 17210671.

Agostino A, Invernizzi F, Tiveron C et al. (2003). Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. Hum Mol Genet 12: 399–413.

Patient RNA

SURF1, ECHS1, MT-ATP6, MT-ND1

Cure Mito partners with Unravel - Unravel's rareSHIFT project uses home RNAseq kits to drive global patient participation in drug discovery, leveraging AI to stratify patient data, predict treatments, and accelerate clinical trials.

To request RNAseq datasets, please contact us at info@curemito.org.

Learn more