High frequency of mitochondrial DNA rearrangements in the peripheral blood of adults with intellectual disability
Our results show that mtDNA rearrangements are frequent in patients with ID, but not in those with ID-ASD, when compared to HC. Additionally, MitoSAlt has demonstrated high sensitivity and accuracy in detecting mtDNA rearrangements, even at very low heteroplasmy levels in blood samples. While the high frequency of mtDNA rearrangements in ID is noteworthy, the role of these rearrangements is currently unclear and needs to be confirmed with further data, particularly in post-mitotic tissues and through age-matched control studies.
Authors
- Bengisu Kevser Bulduk (ORCID: https://orcid.org/0000-0001-7859-4636)
- Rafael Martínez‐Leal (ORCID: https://orcid.org/0000-0002-1333-7951)
- Leire Torres-Egurrola
- Alba Valiente-Pallejà (ORCID: https://orcid.org/0000-0001-6764-4810)
- E. Vilella
- J. Valero (ORCID: https://orcid.org/0000-0002-8658-0602)
- Lourdes Martorell (ORCID: https://orcid.org/0000-0003-4999-2197)
- Helena Torrell-Galceran (ORCID: https://orcid.org/0000-0001-5487-4289)
- Gerard Muntané (ORCID: https://orcid.org/0000-0003-1541-8365)
Institutions
- Universitat Pompeu Fabra (ES)
- Instituto de Salud Carlos III (ES)
- Institut Pere Mata (ES)
- Barcelona Biomedical Research Park (ES)
- Centro de Investigación Biomédica en Red de Salud Mental (ES)
- Institut de Recerca Biomèdica Catalunya Sud (ES)
- Institut de Biologia Evolutiva (ES)
- Centre for Omic Sciences (ES)
- Universitat Rovira i Virgili (ES)
Publication Details
- Journal
- Journal of Intellectual Disability Research
- Published
- 2024-11-06
- DOI
- https://doi.org/10.1111/jir.13197
- Citations
- 1
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- Institut d'Investigació Sanitària Pere Virgili
- Centres de Recerca de Catalunya
- Generalitat de Catalunya
- Ministerio de Ciencia e Innovación
- Agència de Gestió d'Ajuts Universitaris i de Recerca
- Instituto de Salud Carlos III
- European Regional Development Fund