000150650 001__ 150650
000150650 005__ 20250214153849.0
000150650 0247_ $$2doi$$a10.3390/genes12101590
000150650 0248_ $$2sideral$$a126531
000150650 037__ $$aART-2021-126531
000150650 041__ $$aeng
000150650 100__ $$aBellusci, M.
000150650 245__ $$aThe genetic landscape of mitochondrial diseases in Spain: A nationwide call
000150650 260__ $$c2021
000150650 5060_ $$aAccess copy available to the general public$$fUnrestricted
000150650 5203_ $$aThe 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.
000150650 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B33-20R$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00166$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI20-00340$$9info:eu-repo/grantAgreement/ES/ISCIII/PI18-01374
000150650 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000150650 590__ $$a4.141$$b2021
000150650 591__ $$aGENETICS & HEREDITY$$b72 / 175 = 0.411$$c2021$$dQ2$$eT2
000150650 592__ $$a1.032$$b2021
000150650 593__ $$aGenetics (clinical)$$c2021$$dQ2
000150650 593__ $$aGenetics$$c2021$$dQ2
000150650 594__ $$a5.0$$b2021
000150650 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000150650 700__ $$aParedes-Fuentes, A.J.
000150650 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini, E.$$uUniversidad de Zaragoza
000150650 700__ $$aGómez, B.
000150650 700__ $$aMartín, M.A.
000150650 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, J.$$uUniversidad de Zaragoza
000150650 700__ $$aArtuch, R.
000150650 700__ $$aMITOSPAIN Working Group
000150650 700__ $$0(orcid)0000-0001-5964-6138$$aEmperador Ortiz, Sonia$$uUniversidad de Zaragoza
000150650 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000150650 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000150650 773__ $$g12, 10 (2021), 1590 [12 pp]$$pGenes (Basel)$$tGenes$$x2073-4425
000150650 8564_ $$s1294477$$uhttps://zaguan.unizar.es/record/150650/files/texto_completo.pdf$$yVersión publicada
000150650 8564_ $$s2643379$$uhttps://zaguan.unizar.es/record/150650/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000150650 909CO $$ooai:zaguan.unizar.es:150650$$particulos$$pdriver
000150650 951__ $$a2025-02-14-14:01:56
000150650 980__ $$aARTICLE