Treatment, diagnosis and/or prognosis of mitochondrial diseases

The novelty of this invention lies in the identification of the imbalance in intracellular levels of NADPH as a critical factor in the critical factor in the pathology of mitochondrial mitochondrial diseases. This discovery allows the quantification of NADPH levels to be used as a diagnostic marker. diagnostic marker. In addition, these levels could correlate with the evolution and severity of the disease, especially in cases with neurodegeneration. The ability to quantifice intracellular NADPH levels provides an accurate diagnostic tool that can be integrated into diagnostic kits for clinical use. Furthermore, the development of both genetic and pharmacological strategies to restore low NADPH levels in the brains of patients could contribute significantly to ameliorating the symptoms of mitochondrial diseases, opening new avenues for therapeutic treatments.