Massimo Zeviani

Massimo Zeviani

Programme Leader

Molecular basis for inherited mitochondrial disease

Mitochondrial diseases are genetic conditions affecting around 1 in 5,000 of the population of the UK. Since mitochondria are key players in the metabolism of energy, mitochondrial disorders mostly affect the organs of the body that require a great deal of energy, such as the nervous system, the heart and skeletal muscle. These disorders therefore result in severe disability and significantly reduced lifespan. However, mitochondrial diseases can present with a wide variety of symptoms, making the task of identifying the underlying causes correspondingly harder. As a consequence, it is extremely difficult to treat mitochondrial disease, or even to identify a suitable therapeutic approach.

Using new high-throughput DNA sequencing techniques we are identifying the genes and proteins involved in the group of diseases caused by defects in the mitochondrial energy-supplying (oxidative phosphorylation) pathway . Using the SILAC method of quantitative proteomics in collaboration with the Unit's Mass Spectrometry Facility, we are characterizing the molecular basis of the interactions and function of those we have identified over the last five years. These insights, along with a careful analysis of the pathological and physiological features of the conditions are providing clues that allow us to propose and test novel therapeutic strategies for this currently intractable group of diseases.

There is an urgent need for effective therapies for mitochondrial disease. We are focusing our efforts on two main strategies, resulting from our expanding knowledge of the molecular mechanisms of disease and on the pathways that control mitochondrial homeostasis: (i) activation of mitochondrial biogenesis and (ii) AAV-mediated gene replacement.

Research areas

Group Members

Research support

  • Raffaele Cerutti


  • Dr Cristiane Beninca
  • Erika Fernandez-Vizarra
  • Caterina Garone
  • Mark Johnson
  • Marta Luna Sanchez
  • Aurelio Reyes
  • Carlo Viscomi

Post-graduate students

  • Michele Brischigliaro
  • Luigi D'Angelo
  • Anabel Martinez Lyons
  • Federica Prodi
  • Margherita Protasoni




2013 - present
Director of the MRC Mitochondrial Biology Unit, Cambridge, UK
2011 - 2013
Director of the Department of Molecular Medicine at the Istituto Neurologico “Carlo Besta”, Milan (Italy)
2003 - 2013
Director of the Unit of Molecular Neurogenetics at the Istituto Neurologico “Carlo Besta”
1998 – 2002
Director of the Unit of Biochemistry and Genetics at the Istituto Neurologico “Carlo Besta”.
1996 – 1997
Director of the Unit of Molecular Medicine at the Children's Hospital "Bambino Gesù" in Rome (Italy), and also Consultant at the Casa Sollievo della Sofferenza in San Giovanni Rotondo (Foggia-Italy) as Neurogeneticist
1993 – 1996
Associate of Neurology at the Istituto Neurologico "C. Besta", Milan (Italy)
1990 – 1993
Assistant of Neurology at the Department of Biochemistry and Genetics, and also Director of the Laboratory of Molecular Pathology of the Istituto Neurologico "C. Besta", directed by Prof. Stefano Di Donato.


PhD in Genetics"magna cum laude", registered 25 February 1997, University of Paris
Specialization in Neurology "magna cum laude", registered 26 July 1989, University of Verona
Specialization in Endocrinology "magna cum laude", registered 30 July 1983, University of Padova
MD degree "magna cum laude", University of Padova
High School Diploma ("L yceum Classicum")


Course on Mitochondrial Medicine to under graduate students of the Istituto Univesitario Studi Superiori, University of Pavia School of Medicine
Course on Neurogenetics to undergraduate students of the University of Padua School of Medicine
FEBS advanced course in Oxidative Phosphorylation
European School of Medical Genetics, III Course. Lecture on mtDNA genetics and related human pathology
Course on Neurogenetics at the School of Specialization in Medical Genetics of the University of Milano
European School of Medical Genetics, III Course. Lecture on mtDNA genetics and related human pathology
Institute of General Pathology, University of Padova. Taught histopathology to 3rd year medical students
Institute of Medical Semeiotics, Universiy of Padova. Taught physical examination to 3rd year medical students

Honours & Awards

June 2013
Grand Prix of the NRJ Foundation, Paris, for “Genetics of degenerative diseases”,
April 2009
“Adam Barski Honorary Lecture in Mitochondrial Disease” The Sickkids Hospital, University of Toronto, ON, CA,
August-September 2008
“Sir William Dunn” Scholar at The Dunn Institute of Nutrition – MRC, Cambridge, UK,
“Gaetano Conte” Prize of the Mediterranean Society of Myology
December 2004
“René Descartes” EU award for European transnational research, Prague,
May 2000
“Brain” award for reserach on Neurogenetics
October 1998
"Late breaking news" Lecture at the Annual Meeting of the American Society of Human Genetics, Denver, USA
June 1998
“Anita Harding” Memorial Lecture, IX° Meeting of the European Neurological Society,
June 1995
"Best Presentation" award at the 4° Meeting of the European Neurological Society,
INSERM “Post Vert” award for Visiting Researchers, 1994. Associazione Italiana Ricerche sull'Handicap (AIRH) Award,
September 1990
Young Researcher Award at the 4° National Congress of the Italian Federation for the Study of Inherited Disorders (FISME), Milano,
January 1986
"Valigia dell'Intelletto" Award by A.R.I.N. (Associazione Italiana per la Promozione della Ricerca neurologica) for Clinical Research in Neurology,
September 1986
Young Researcher Award at the 1st International Congress on "Molecular genetics of neurological and neuromuscular diseases", Saint Vincent,