{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T01:12:42Z","timestamp":1792199562374,"version":"4.4.0"},"reference-count":33,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2025,1,27]],"date-time":"2025-01-27T00:00:00Z","timestamp":1737936000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health"},{"name":"National Recovery and Resilience Plan \u201cItalia Domani\u201d"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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&gt;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.<\/jats:p>","DOI":"10.3390\/ijms26031116","type":"journal-article","created":{"date-parts":[[2025,1,28]],"date-time":"2025-01-28T06:47:29Z","timestamp":1738046849000},"page":"1116","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Adult Leigh Syndrome Associated with the m.15635T&gt;C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene"],"prefix":"10.3390","volume":"26","author":[{"given":"Concetta Valentina","family":"Tropeano","sequence":"first","affiliation":[{"name":"Programma di Neurogenetica, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4639-8929","authenticated-orcid":false,"given":"Chiara","family":"La Morgia","sequence":"additional","affiliation":[{"name":"Programma di Neurogenetica, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy"},{"name":"Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6871-3451","authenticated-orcid":false,"given":"Alessandro","family":"Achilli","sequence":"additional","affiliation":[{"name":"Department of Biology and Biotechnology \u201cL. Spallanzani\u201d, University of Pavia, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6804-7302","authenticated-orcid":false,"given":"Luisa","family":"Iommarini","sequence":"additional","affiliation":[{"name":"Department of Pharmacy and Biotechnology (FABIT), University of Bologna, 40126 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5405-9150","authenticated-orcid":false,"given":"Gaia","family":"Tioli","sequence":"additional","affiliation":[{"name":"Department of Pharmacy and Biotechnology (FABIT), University of Bologna, 40126 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0666-4380","authenticated-orcid":false,"given":"Leonardo","family":"Caporali","sequence":"additional","affiliation":[{"name":"Programma di Neurogenetica, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3941-8098","authenticated-orcid":false,"given":"Anna","family":"Olivieri","sequence":"additional","affiliation":[{"name":"Department of Biology and Biotechnology \u201cL. Spallanzani\u201d, University of Pavia, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Lucia","family":"Valentino","sequence":"additional","affiliation":[{"name":"Programma di Neurogenetica, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy"},{"name":"Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1815-1013","authenticated-orcid":false,"given":"Rocco","family":"Liguori","sequence":"additional","affiliation":[{"name":"Programma di Neurogenetica, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy"},{"name":"Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0118-4177","authenticated-orcid":false,"given":"Piero","family":"Barboni","sequence":"additional","affiliation":[{"name":"Studio Oculistico d\u2019Azeglio, 40123 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0319-3579","authenticated-orcid":false,"given":"Andrea","family":"Martinuzzi","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, University of Torino, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0506-499X","authenticated-orcid":false,"given":"Caterina","family":"Tonon","sequence":"additional","affiliation":[{"name":"Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, 40138 Bologna, Italy"},{"name":"Programma Neuroimmagini Funzionali e Molecolari, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaele","family":"Lodi","sequence":"additional","affiliation":[{"name":"Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, 40138 Bologna, Italy"},{"name":"Programma Neuroimmagini Funzionali e Molecolari, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4163-4478","authenticated-orcid":false,"given":"Antonio","family":"Torroni","sequence":"additional","affiliation":[{"name":"Department of Biology and Biotechnology \u201cL. Spallanzani\u201d, University of Pavia, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4923-6404","authenticated-orcid":false,"given":"Valerio","family":"Carelli","sequence":"additional","affiliation":[{"name":"Programma di Neurogenetica, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy"},{"name":"Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0830-0000","authenticated-orcid":false,"given":"Anna Maria","family":"Ghelli","sequence":"additional","affiliation":[{"name":"Programma di Neurogenetica, IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy"},{"name":"Department of Pharmacy and Biotechnology (FABIT), University of Bologna, 40126 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1097\/NEN.0000000000000195","article-title":"Leigh Syndrome: Neuropathology and Pathogenesis","volume":"74","author":"Lake","year":"2015","journal-title":"J. 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