Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene
We have described two novel-single <i>OPA1</i> mutations in two patients characterized by early-onset neurological signs, never documented, thus expanding the clinical spectrum of this complex syndrome. Moreover, both yeast model and patients derived fibroblasts showed mitochondrial defects, including decreased mtDNA maintenance, correlating with patients' clinical phenotypes.
Authors
- Flavio Dal Canto (ORCID: https://orcid.org/0000-0002-6447-4585)
- Michela Di Nottia (ORCID: https://orcid.org/0000-0001-8970-0617)
- Rosalba Carrozzo (ORCID: https://orcid.org/0000-0002-3327-4054)
- Claudia Nesti (ORCID: https://orcid.org/0000-0001-5769-8655)
- Alessandra Torraco (ORCID: https://orcid.org/0000-0002-8148-9295)
- Alexandru Ionut Gilea (ORCID: https://orcid.org/0000-0002-4103-8385)
- Teresa Rizza
- Filippo Maria Santorelli (ORCID: https://orcid.org/0000-0002-1359-9062)
- Daria Diodato (ORCID: https://orcid.org/0000-0003-3607-8523)
- Enrico Baruffini (ORCID: https://orcid.org/0000-0002-8280-7849)
- Barbara Siri (ORCID: https://orcid.org/0000-0002-2876-4745)
- P Goffrini (ORCID: https://orcid.org/0000-0002-8650-4765)
- Diego Martinelli (ORCID: https://orcid.org/0000-0002-9324-2871)
- Carlo Dionisi‐Vici (ORCID: https://orcid.org/0000-0002-0007-3379)
- Martina Zoccola
- Enrico Bertini
Institutions
- University of Parma (IT)
- Bambino Gesù Children's Hospital (IT)
- Fondazione Stella Maris (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2024-08-20
- DOI
- https://doi.org/10.3389/fgene.2024.1437959
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- European Commission
- Ministero della Salute