The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call
Por:
Bellusci, M, Paredes-Fuentes, AJ, Ruiz-Pesini, E, Gomez, B, Martin, MA, Montoya, J, Artuch, R, Díaz-Manera J., Gallardo, E
Publicada:
1 oct 2021
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.
Filiaciones:
Bellusci, M:
12 Octubre Univ Hosp, Reference Ctr Inherited Metab Disorders, Madrid 28041, Spain
Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid 28029, Spain
Paredes-Fuentes, AJ:
Hosp St Joan Deu, Inst Recerca St Joan Deu, Dept Clin Biochem, Barcelona 08950, Spain
Ruiz-Pesini, E:
Univ Zaragoza, Inst Hlth Res Aragon IISAragon, Dept Biochem & Mol Biol, Zaragoza 50009, Spain
Gomez, B:
Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid 28029, Spain
Martin, MA:
Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid 28029, Spain
Inst Invest Sanitaria 12 Octubre imas12, Mitochondrial & Neuromuscular Disorders Lab, Madrid 28041, Spain
Montoya, J:
Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid 28029, Spain
Univ Zaragoza, Inst Hlth Res Aragon IISAragon, Dept Biochem & Mol Biol, Zaragoza 50009, Spain
Artuch, R:
Inst Salud Carlos III, Biomed Network Res Ctr Rare Dis CIBERER, Madrid 28029, Spain
Hosp St Joan Deu, Inst Recerca St Joan Deu, Dept Clin Biochem, Barcelona 08950, Spain
Díaz-Manera J.:
Institut d’Investigació Biomèdica Sant Pau (IIB SANT PAU), Sant Quintí 77-79, 08041 Barcelona, Spain
Gallardo, E:
Institut d’Investigació Biomèdica Sant Pau (IIB SANT PAU), Sant Quintí 77-79, 08041 Barcelona, Spain
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