MELAS is a rare disease

MELAS is a rare disease with a prevalence of 1-5 per 10.000 individuals. Patients suffer from a range of severe clinical symptoms including seizures, muscle weakness, deafness, cardiomyopathy and renal failure, which can ultimately lead to death. Several research lines headed by Prof. Smeitink have provided important insight into the mechanisms behind mitochondrial dysfunction and its cellular consequences. In recent studies, the group has been able to identify and validate several drug targets and compounds, which have proven very suitable for drug development. They are now aiming to translate these promising research results into an actual treatment for MELAS patients. In this film Prof. Smeitink tells about his findings.