In 2001, thanks to the substantial support of the Pierfranco & Luisa Mariani Foundation,
the Center for the Study of Mitochondrial Pediatric Diseases was esablished as part of the C. Besta Institute of Neurology.
Research and advanced diagnostic activities are strictly combined to each other in order to offer a service of excellence to patients and families, and make progress toward the elucidation of the causes of and mechanisms leading to mitochondrial disease. The ultimate goal is to identify rational therapeutic strategies to combat mitochondrial disorders.
In addition to highly qualified diagnostic activities, the Center hosts numerous research projects, whose aim is to further the understanding of the genetic bases of mitochondrial diseases and the molecular and cellular mechanisms linking the genetic defect to the different neurological syndromes affecting both pediatric and adult patients. To this aim, the Center works in close collaboration with the Division of Child Neurology at the Institute of Neurology. Our team is proud of a long record of scientific achievements in the research on mitochondrial... continue>>
The Center offers to patient and families a range of complete and integrated tests essential for the study of mitochondrial illnesses. These include the biochemical analysis of the respiratory chain, the screening of the most frequent mutations of mitochondrial DNA and of all the so-far-known nuclear genes responsible for mitochondrial diseases. The complete sequence analysis of the entire mitochondrial genome is also available for selected cases.These procedures are... continue>>