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Lopriore, P.* ; Legati, A.* ; Neuhofer, C. ; Gerfo, A.L.* ; Kopajtich, R. ; Barresi, M.* ; Cecchi, G.* ; Pavlov, M. ; Izzo, R.* ; Montano, V.* ; Caligo, M.A.* ; Berutti, R. ; Mancuso, M.* ; Prokisch, H. ; Ghezzi, D.*

An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotype.

Mitochondrion 83:102037 (2025)

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AIM: To identify the genetic cause in a previously unsolved pedigree, with mother and two daughters suffering of dilated cardiomyopathy with prevailing arrhythmic burden associated with diabetes mellitus and sensorineural hearing loss, without clear evidence of progressive external ophthalmoplegia. METHODS: Several genetic tests were performed over the years including single-gene sequencing, mitochondrial DNA (mtDNA) sequencing, NGS panel for mitochondrial diseases and cardiomyopathies, clinical exome sequencing and whole exome sequencing. Specific amplifications and long-read NGS were used to evaluate mtDNA structural alterations. RESULTS: By means whole exome sequencing we found a novel heteroplasmic 12 kb-long single deletion in the mtDNA in all affected family members, confirmed by long-range PCR. However, a deeper investigation by long-read NGS revealed indeed the presence of rearranged mtDNA species, formed by a wild-type plus a deleted molecule. This mtDNA duplication turned out to be inherited in our pedigree and present in all tested specimens. CONCLUSION: 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.

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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Mitochondrial Dna ; Single Large-scale Deletion ; Structural Rearrangement ; Mtdna ; Mtdna Duplication; Mitochondrial-dna Deletion; Cardiomyopathy

ISSN (print) / ISBN 1567-7249

e-ISSN 1872-8278

Journal Mitochondrion

Quellenangaben Volume: 83, Article Number: 102037

Publisher Elsevier

Publishing Place 125 London Wall, London, England

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Neurogenomics (ING)

Grants European Union - Next Generation EU
Italian Ministry of Health
EJPRD project GENOMIT