#NeuroConCiencia · Registro nacional de pacientes con enfermedades mitocondriales
- Dr. Rafa Artuch · Specialist in Clinical Biochemistry. Group leader Metabolic and mitochondrial medicine of the Institut de Recerca Sant Joan de Déu. Head of the Bichemistry service of the SJD Barcelona Children’s Hospital. CIBERER.
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The frequency of mitochondrial diseases (MD) has been scarcely documented, and only a few studies have reported data in some 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 3,274 cases from 49 Spanish provinces were reported by 39 centres. Excluding duplicated and unsolved cases, 2,761 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 1,105 in mitochondrial DNA genes (33% paediatric patients). Further 1,148 cases harboured mutations in 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 rate/million of inhabitants was 6.34 (95% CI: 5.71-6.97) 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.