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.
The Center is located at the Bicocca branch of the Institute. Within the same structure, biochemical and molecular diagnostics of adult mitochondrial pathologies are also carried out.
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.
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 carried out by our highly-qualified personnel, working with state-of-the-art equipment, and are combined with the clinical evaluation, genetic counseling, morphologic analysis of muscle biopsies and neuroradiological and neurophysiological evaluations available at the Institute of Neurology.
Due to our two-decade long experience in the field, we are able to propose today to our patients one of the most complete and qualified diagnostic-therapeutical protocols in the world.
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 disease.
Our researchers, under the direction of Dr. Massimo Zeviani, have been successful in the identification of numerous genetic defects associated with mitochondrial pathologies. Our group collaborates with a lot of international laboratories with the aims to clarify the pathogenic mechanisms of mitochondrial disease in order to identify the appropriate therapies. The Center also hosts numerous advanced training and theoretical courses for neuroscience researchers, neurologists and child neurologists at both national and European levels.