Mitochondria are the “power plants” of our cells, producing the energy needed for the body to function. When mitochondria do not work properly, serious diseases can develop, including Leigh syndrome. This is a rare inherited disorder that mainly affects children. Symptoms include muscle weakness, epilepsy, movement problems, breathing difficulties, and delayed development. This research used a mouse model to better understand what happens in the brain during Leigh syndrome. The study showed that brain cells try to compensate for energy loss by burning more fats, but this also increases harmful substances that can damage cells. Researchers also found problems in the communication between nerve cells. Several possible treatments were explored. One important finding was that a warmer environment reduced disease symptoms in mice. This could become a simple, non-invasive treatment strategy. In addition, gene therapy and drugs targeting specific cellular pathways may offer promising future treatments for Leigh syndrome and related mitochondrial diseases.
Melissa van de Wal (1997) studied Biology and Medical Laboratory Research at HAN University of Applied Sciences and later completed a Master’s degree in Medical Biology at Radboud University. In 2020, she started her PhD research at Radboudumc, focusing on mitochondrial dysfunction and temperature in the Ndufs4 mouse model. She currently works as Program Manager at BioConnection.