Supervisors info:
Καλαμπόκας Θεόδωρος, Επίκουρος Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Πανουλής Κωνσταντίνος, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Καλαμπόκας Εμμανουήλ, Επίκουρος Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Summary:
Mitochondrial diseases, resulting from dysfunctions in the mitochondria, pose significant challenges due to their complexity and impact on organs with high energy demands. Mitochondrial diseases manifest a wide range of severe symptoms, including muscle weakness, neurological issues, and organ failure, complicating diagnosis and treatment. Currently, no cure exists, with treatments focusing on symptom management and slowing disease progression. This review highlights the exploration of mitochondrial replacement therapy (MRT) and available techniques, such as pronuclear transfer and maternal spindle transfer, as potential treatments. The significance of mitochondrial DNA in genetics, cellular biology, and human diseases underpins the development of MRT, aiming to prevent disease transmission by replacing mutated mtDNA with healthy mtDNA in oocytes or embryos. MRT techniques, including Maternal Spindle Transfer (MST) and Pronuclear Transfer (PNT), offer hope for families affected by mitochondrial diseases, demonstrating success in animal models and limited human applications. However, they also present ethical, legal, and social challenges, particularly concerning germline modification and the concept of "three-parent babies." Future directions in mitochondrial therapy encompass emerging technologies like gene editing and targeted pharmacological interventions, offering new avenues for treatment. MRT's potential extends to treating age-related diseases, infertility, and inherited metabolic disorders, marking a significant advance in reproductive medicine and genetics. This review underscores the promise and challenges of MRT, emphasizing the need for continued research, ethical debate, and regulatory oversight to harness its potential responsibly and effectively.
Keywords:
Mitochondrial replacement therapy, mtDNA diseases, Germline modification, Pronuclear transfer, Maternal spindle transfer, Ethical considerations
