The genetic landscape of mitochondrial diseases in Spain: A nationwide call

Bellusci, M. ; Paredes-Fuentes, A.J. ; Ruiz-Pesini, E. (Universidad de Zaragoza) ; Gómez, B. ; Martín, M.A. ; Montoya, J. (Universidad de Zaragoza) ; Artuch, R. ; MITOSPAIN Working Group ; Emperador Ortiz, Sonia (Universidad de Zaragoza)

Resumen: 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. © 2021 by the authors. Licensee MDPI, Basel, Switzerland.

Idioma: Inglés

DOI: 10.3390/genes12101590

Año: 2021

Publicado en: Genes 12, 10 (2021), 1590 [12 pp]
ISSN: 2073-4425

Factor impacto JCR: 4.141 (2021)

Categ. JCR: GENETICS & HEREDITY rank: 72 / 175 = 0.411 (2021) - Q2 - T2

Factor impacto CITESCORE: 5.0 - Medicine (Q2) - Biochemistry, Genetics and Molecular Biology (Q2)

Factor impacto SCIMAGO: 1.032 - Genetics (clinical) (Q2) - Genetics (Q2)

Financiación: info:eu-repo/grantAgreement/ES/DGA/B33-20R
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00166
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI20-00340
Financiación: info:eu-repo/grantAgreement/ES/ISCIII/PI18-01374

Tipo y forma: Artículo (Versión definitiva)

Área (Departamento): Area Histología (Dpto. Anatom.Histolog.Humanas)
Área (Departamento): Área Bioquímica y Biolog.Mole. (Dpto. Bioq.Biolog.Mol. Celular)