Summary of Investigación y enfermedad mitocondrial

The video discusses Mitochondrial Diseases, focusing on the experiences of two children, Hugo and Andrés, who suffer from such conditions. Mitochondrial Diseases are rare and currently incurable, prompting families to seek research and treatment options.

Scientific Concepts and Discoveries:

Mitochondrial Diseases: These diseases are characterized by failures in the mitochondria, which are essential for energy production in cells. When mitochondria do not function properly, energy supply is compromised, particularly affecting energy-demanding cells like those in the heart, endocrine system, respiratory system, and neurons.
Neurodegeneration: Many patients experience Neurodegeneration due to the high energy demands of neurons. If mitochondria are defective, neurons may die, leading to progressive loss of vital functions.
Personalized Precision Medicine: The Mito Cure project aims to develop tailored treatments for patients by studying their specific mitochondrial mutations.
Cell Reprogramming: Researchers extract skin cells from patients and reprogram them into neurons using specific genes related to neuronal development. This non-invasive method allows for the study of the disease in a laboratory setting.

Methodology:

Extraction of Skin Cells: Skin cells are taken as a non-invasive method to study Mitochondrial Diseases.
Cell Reprogramming Process:
- Skin cells are introduced to specific genes.
- Over a month, these cells are transformed into neurons for research purposes.

Research and Community Involvement:

The families of affected children actively participate in research, supporting the Mito Cure project at the Pablo de Olavide University in Seville. The video highlights the importance of funding for ongoing research and therapies, as well as the need for continued support for families beyond the age of six, when early intervention services typically end.

Featured Researchers and Sources:

Dr. Sánchez Alcázar (researcher involved in the Mito Cure project)
Pablo de Olavide University, Seville
AEPMI (Association of Patients with Mitochondrial Pathology)

The video emphasizes the collaborative effort between families and researchers to find effective treatments and the importance of public funding for ongoing research into Mitochondrial Diseases.

Notable Quotes

— 06:09 — « His project looks very good because to make I mean to do a personalized treatment to see how the mitochondria improves and to be able to stop this disease while a cure appears and that our children do not continue to degenerate. »

— 06:46 — « This is a fight that in research we should all keep in mind because we believe that this does not affect but does affect the association of patients with mitochondrial pathology. »

— 08:20 — « We are optimistic and we have preliminary results that give us They encourage that we must continue fighting and try everything possible to keep this project moving forward. »