Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene
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 <i>b</i> (<i>MT-CYB</i>) 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.
Authors
- Caterina Tonon (ORCID: https://orcid.org/0000-0002-0506-499X)
- Raffaele Lodi (ORCID: https://orcid.org/0000-0003-3878-304X)
- Anna Ghelli (ORCID: https://orcid.org/0000-0003-0830-0000)
- Piero Barboni (ORCID: https://orcid.org/0000-0002-0118-4177)
- Alessandro Achilli (ORCID: https://orcid.org/0000-0001-6871-3451)
- Antonio Torroni (ORCID: https://orcid.org/0000-0002-4163-4478)
- Anna Olivieri (ORCID: https://orcid.org/0000-0002-3941-8098)
- Leonardo Caporali (ORCID: https://orcid.org/0000-0002-0666-4380)
- Chiara La Morgia (ORCID: https://orcid.org/0000-0002-4639-8929)
- Maria Lucia Valentino (ORCID: https://orcid.org/0000-0001-5323-0115)
- Luisa Iommarini (ORCID: https://orcid.org/0000-0002-6804-7302)
- Andrea Martinuzzi (ORCID: https://orcid.org/0000-0002-0319-3579)
- Gaia Tioli (ORCID: https://orcid.org/0000-0002-5405-9150)
- Rocco Liguori (ORCID: https://orcid.org/0000-0002-1815-1013)
- Valério Carelli (ORCID: https://orcid.org/0000-0003-4923-6404)
- Concetta Valentina Tropeano (ORCID: https://orcid.org/0000-0001-5257-5648)
Institutions
- University of Pavia (IT)
- Istituto delle Scienze Neurologiche di Bologna (IT)
- University of Bologna (IT)
Publication Details
- Journal
- International Journal of Molecular Sciences
- Published
- 2025-01-27
- DOI
- https://doi.org/10.3390/ijms26031116
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute