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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/224918
Mitochondrial methylcytosines as blood-based biomarkers for Alzheimer's disease dementia prognosis
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Alzheimer's Disease Dementia (ADD) prognosis is an unmet medical need. Mitochondrial dysfunction is an early AD etiopathogenic factor. The present study analyzed mitochondrial DNA (mtDNA) methylation patterns in blood samples from patients with mild cognitive impairment (MCI) who progressed to ADD (P), MCI remained stable (NP), and Cognitively Normal (CN) individuals. Differentially methylated sites were identified in the D-loop region in both CN vs. NP and NP vs. P comparisons, even before β-amyloid positivity. A Random Forest model was developed using mtDNA methylation data combined with cognitive and risk factor features. Model's performance was assessed by cross-validation and tested on an independent set, achieving 84.4% accuracy in training and 83.2% (95% CI: 75.2%-89.4%) in testing. For identifying P patients, sensitivity and specificity were 95.1% and 70.7%, respectively. The AUC-ROC was 90.3%. The developed model demonstrates predictive capacity in distinguishing cognitive decline and stability in MCI individuals, independently of their β-amyloid status.
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GASCÓN-BAYARRI, Jordi, MOSQUERA MAYO, José luís, BLANCH LOZANO, Marta, MARTÍ BENAIGES, Pau, FONTAL AINA, Beatriz, TRAPERO CANDELA, Carla, ROJO FITÉ, Nuria, RICO, Inma, CAMPDELACREU I FUMADÓ, Jaume, FOWLER, Cristopher, LAWS, Simon m., TORT MERINO, Adrià, SÁNCHEZ DEL VALLE DÍAZ, Raquel, BELLO, Joan, FORTEA ORMAECHEA, Juan, LLEÓ BISA, Alberto, MEHANIAN, Courosh, SWERDLOW, Russell h., REÑÉ RAMÍREZ, Ramon, BARRACHINA, Marta. Mitochondrial methylcytosines as blood-based biomarkers for Alzheimer's disease dementia prognosis. _iScience_. 2025. Vol. 28, núm. 9, pàgs. 113418. [consulta: 21 de desembre de 2025]. ISSN: 2589-0042. [Disponible a: https://hdl.handle.net/2445/224918]