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This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Case Report

Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene

by
Concetta Valentina Tropeano
1,†,
Chiara La Morgia
1,2,†,
Alessandro Achilli
3,
Luisa Iommarini
4,
Gaia Tioli
4,
Leonardo Caporali
1,
Anna Olivieri
3,
Maria Lucia Valentino
1,2,
Rocco Liguori
1,2,
Piero Barboni
5,
Andrea Martinuzzi
6,
Caterina Tonon
2,7,
Raffaele Lodi
2,7,
Antonio Torroni
3,
Valerio Carelli
1,2,* and
Anna Maria Ghelli
1,4,*
1
Programma di Neurogenetica, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy
2
Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, 40138 Bologna, Italy
3
Department of Biology and Biotechnology “L. Spallanzani”, University of Pavia, 27100 Pavia, Italy
4
Department of Pharmacy and Biotechnology (FABIT), University of Bologna, 40126 Bologna, Italy
5
Studio Oculistico d’Azeglio, 40123 Bologna, Italy
6
Department of Public Health and Pediatric Sciences, University of Torino, 10126 Torino, Italy
7
Programma Neuroimmagini Funzionali e Molecolari, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy
*
Authors to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Int. J. Mol. Sci. 2025, 26(3), 1116; https://doi.org/10.3390/ijms26031116
Submission received: 20 November 2024 / Revised: 17 January 2025 / Accepted: 22 January 2025 / Published: 27 January 2025
(This article belongs to the Special Issue Mitochondrial Biology and Human Diseases)
Versions Notes

Abstract

We report on a sporadic patient suffering Leigh syndrome characterized by bilateral lesions in the lenticular nuclei and spastic dystonia, intellectual disability, sensorineural deafness, hypertrophic cardiomyopathy, exercise intolerance, and retinitis pigmentosa. Complete sequencing of mitochondrial DNA revealed the heteroplasmic nucleotide change m.15635T>C affecting a highly conserved amino acid position (p.Ser297Pro) in the cytochrome b (MT-CYB) gene on a haplogroup K1c1a background, which includes a set of four non-synonymous polymorphisms also present in the same gene. Biochemical studies documented respiratory chain impairment due to complex III defect. This variant fulfils the criteria for being pathogenic and was previously reported in a sporadic case of fatal neonatal polyvisceral failure.
Keywords: Respiratory complex III; mtDNA; Leigh syndrome; MT-CYB Respiratory complex III; mtDNA; Leigh syndrome; MT-CYB

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MDPI and ACS Style

Tropeano, C.V.; La Morgia, C.; Achilli, A.; Iommarini, L.; Tioli, G.; Caporali, L.; Olivieri, A.; Valentino, M.L.; Liguori, R.; Barboni, P.; et al. Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene. Int. J. Mol. Sci. 2025, 26, 1116. https://doi.org/10.3390/ijms26031116

AMA Style

Tropeano CV, La Morgia C, Achilli A, Iommarini L, Tioli G, Caporali L, Olivieri A, Valentino ML, Liguori R, Barboni P, et al. Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene. International Journal of Molecular Sciences. 2025; 26(3):1116. https://doi.org/10.3390/ijms26031116

Chicago/Turabian Style

Tropeano, Concetta Valentina, Chiara La Morgia, Alessandro Achilli, Luisa Iommarini, Gaia Tioli, Leonardo Caporali, Anna Olivieri, Maria Lucia Valentino, Rocco Liguori, Piero Barboni, and et al. 2025. "Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene" International Journal of Molecular Sciences 26, no. 3: 1116. https://doi.org/10.3390/ijms26031116

APA Style

Tropeano, C. V., La Morgia, C., Achilli, A., Iommarini, L., Tioli, G., Caporali, L., Olivieri, A., Valentino, M. L., Liguori, R., Barboni, P., Martinuzzi, A., Tonon, C., Lodi, R., Torroni, A., Carelli, V., & Ghelli, A. M. (2025). Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene. International Journal of Molecular Sciences, 26(3), 1116. https://doi.org/10.3390/ijms26031116

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