An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotype
While mtDNA single large-scale deletions are generally considered sporadic, few old reports described maternally inherited mtDNA duplication We suggest that mtDNA large rearrangements should be considered as possible disease causes in familial cases with unusual mitochondrial phenotypes. Long-read sequencing is useful for the detection of these variants, particularly mtDNA duplications.
Authors
- Maria A. Caligo (ORCID: https://orcid.org/0000-0003-0589-1829)
- Riccardo Berutti (ORCID: https://orcid.org/0000-0003-1862-3700)
- Vincenzo Montano (ORCID: https://orcid.org/0000-0002-7548-7699)
- Piervito Lopriore (ORCID: https://orcid.org/0000-0002-9789-3129)
- Rossella Izzo (ORCID: https://orcid.org/0000-0001-5785-5016)
- Christiane Neuhofer (ORCID: https://orcid.org/0000-0002-5037-4444)
- M Mancuso
- Holger Prokisch (ORCID: https://orcid.org/0000-0003-2379-6286)
- Guillermo Cecchi (ORCID: https://orcid.org/0000-0003-1013-8348)
- Andrea Legati (ORCID: https://orcid.org/0000-0002-8178-6126)
- Daniele Ghezzi (ORCID: https://orcid.org/0000-0002-6564-3766)
- Robert Kopajtich (ORCID: https://orcid.org/0000-0002-9119-3455)
- Annalisa Lo Gerfo
- Martin Pavlov
- Marco Barresi
Institutions
- University of Pisa (IT)
- Scuola Superiore Sant'Anna (IT)
- Helmholtz Zentrum München (DE)
- Institute of Human Genetics (PL)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- Azienda Ospedaliera Universitaria Pisana (IT)
Publication Details
- Journal
- Mitochondrion
- Published
- 2025-03-31
- DOI
- https://doi.org/10.1016/j.mito.2025.102037
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- European Commission
- Ministero della Salute
- Università di Bologna