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

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...

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Autores principales: Bellusci, Marcello, Paredes-Fuentes, Abraham J, Ruiz-Pesini, Eduardo, Gómez, Beatriz, Martín, Miguel A, Montoya, Julio, Artuch, Rafael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535857/
https://www.ncbi.nlm.nih.gov/pubmed/34680984
http://dx.doi.org/10.3390/genes12101590
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author Bellusci, Marcello
Paredes-Fuentes, Abraham J
Ruiz-Pesini, Eduardo
Gómez, Beatriz
Martín, Miguel A
Montoya, Julio
Artuch, Rafael
author_facet Bellusci, Marcello
Paredes-Fuentes, Abraham J
Ruiz-Pesini, Eduardo
Gómez, Beatriz
Martín, Miguel A
Montoya, Julio
Artuch, Rafael
author_sort Bellusci, Marcello
collection PubMed
description 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.
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spelling pubmed-85358572021-10-23 The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call Bellusci, Marcello Paredes-Fuentes, Abraham J Ruiz-Pesini, Eduardo Gómez, Beatriz Martín, Miguel A Montoya, Julio Artuch, Rafael Genes (Basel) Article 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. MDPI 2021-10-09 /pmc/articles/PMC8535857/ /pubmed/34680984 http://dx.doi.org/10.3390/genes12101590 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Bellusci, Marcello
Paredes-Fuentes, Abraham J
Ruiz-Pesini, Eduardo
Gómez, Beatriz
Martín, Miguel A
Montoya, Julio
Artuch, Rafael
The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call
title The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call
title_full The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call
title_fullStr The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call
title_full_unstemmed The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call
title_short The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call
title_sort genetic landscape of mitochondrial diseases in spain: a nationwide call
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535857/
https://www.ncbi.nlm.nih.gov/pubmed/34680984
http://dx.doi.org/10.3390/genes12101590
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