Therapies for mitochondrial diseases

Albert Quintana

Universitat Autònoma de Barcelona

One in every 5,000 children suffers from a mitochondrial disease, a type of rare genetic disorder that is the consequence of a dysfunction in the mitochondria, the power-generating units of cells. There is no treatment for these pathologies, they are degenerative and very serious, often leading to death.

This type of diseases usually affect the tissues and cells that consume most energy, such as the brain and neurons. However, the reason why one particular type of neurons dies and others do not remains unknown.

The project authors have discovered that basal ganglia neurons are often affected. Scientists suspect that the mitochondria may make these cells believe they are infected, triggering signals that lead to death. Consequently, the project seeks to reverse these signals in order to develop new therapies for mitochondrial diseases.

Mitochondrial transcription as a trigger for neurodegeneration (Mito Trigger)

500.000 €