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Article

The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call

1
Reference Centre for Inherited Metabolic Disorders, 12 de Octubre University Hospital, 28041 Madrid, Spain
2
Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain
3
Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain
4
Department of Biochemistry and Molecular Biology, Institute for Health Research of Aragón (IISAragón), University of Zaragoza, 50009 Zaragoza, Spain
5
Mitochondrial & Neuromuscular Disorders Laboratory, Instituto de Investigación Sanitaria 12 de Octubre (imas12), 28041 Madrid, Spain
*
Authors to whom correspondence should be addressed.
MITOSPAIN Working Group is provided in Appendix A.
Academic Editors: Monika Olahova and Robert W. Taylor
Genes 2021, 12(10), 1590; https://doi.org/10.3390/genes12101590
Received: 20 September 2021 / Revised: 30 September 2021 / Accepted: 5 October 2021 / Published: 9 October 2021
(This article belongs to the Special Issue Expanding the Genetic Landscape of Mitochondrial Diseases)
The frequency of mitochondrial diseases (MD) has been scarcely documented, and only a few studies have reported data in certain specific geographical areas. In this study, we arranged a nationwide call in Spain to obtain a global estimate of the number of cases. A total of 3274 cases from 49 Spanish provinces were reported by 39 centres. Excluding duplicated and unsolved cases, 2761 patients harbouring pathogenic mutations in 140 genes were recruited between 1990 and 2020. A total of 508 patients exhibited mutations in nuclear DNA genes (75% paediatric patients) and 1105 in mitochondrial DNA genes (33% paediatric patients). A further 1148 cases harboured mutations in the MT-RNR1 gene (56% paediatric patients). The number of reported cases secondary to nuclear DNA mutations increased in 2014, owing to the implementation of next-generation sequencing technologies. Between 2014 and 2020, excepting MT-RNR1 cases, the incidence was 6.34 (95% CI: 5.71–6.97) cases per million inhabitants at the paediatric age and 1.36 (95% CI: 1.22–1.50) for adults. In conclusion, this is the first study to report nationwide epidemiological data for MD in Spain. The lack of identification of a remarkable number of mitochondrial genes necessitates the systematic application of high-throughput technologies in the routine diagnosis of MD. View Full-Text
Keywords: mitochondrial diseases; mitochondrial DNA mutations; nuclear DNA mutations; epidemiological data; incidence; Spanish registry mitochondrial diseases; mitochondrial DNA mutations; nuclear DNA mutations; epidemiological data; incidence; Spanish registry
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MDPI and ACS Style

Bellusci, M.; Paredes-Fuentes, A.J.; Ruiz-Pesini, E.; Gómez, B.; MITOSPAIN Working Group; Martín, M.A.; Montoya, J.; Artuch, R. The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call. Genes 2021, 12, 1590. https://doi.org/10.3390/genes12101590

AMA Style

Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, MITOSPAIN Working Group, Martín MA, Montoya J, Artuch R. The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call. Genes. 2021; 12(10):1590. https://doi.org/10.3390/genes12101590

Chicago/Turabian Style

Bellusci, Marcello, Abraham J. Paredes-Fuentes, Eduardo Ruiz-Pesini, Beatriz Gómez, MITOSPAIN Working Group, Miguel A. Martín, Julio Montoya, and Rafael Artuch. 2021. "The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call" Genes 12, no. 10: 1590. https://doi.org/10.3390/genes12101590

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