Massimo Zeviani - Full Professor

Department and institution: Cambridge University - Medical Research Council, Mitochondrial Biology Unit,
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Keywords: Mitochondria, Mitochondrial diseases, Mitochondrial DNA, Gene therapy, Mitochondrial biogenesis

Research interests

    I am actively committed to the elucidation of the molecular basis of mitochondrial disease, by identifying new mitochondrial disease genes in selected patients, investigate on the pathophysiology of mitochondrial disorders, and shed light on the mechanisms underpinning tissue specificity, variability of genetic penetrance, and clinical diversity typical of these conditions. This research ultimately fosters the development of rational therapeutic strategies that we are testing on cellular and animal models, based on pharmacological, cellular and genetic approaches. Not only this project is medically relevant, linking mutations to cell, tissue and whole-organism dysfunction and disease, it is also important for making progress in fundamental research, by expanding knowledge on the mechanistic characterization of mitochondrial energy-related pathways.

Curriculum vitae

Education History

    Massimo Zeviani was born on November 5, 1955. He graduated ("magna cum laude") in Medicine in 1980 at the University of Padua (Italy). He became in 1983 specialist in Endocrinology (specialization “magna cum laude”) and in 1989 specialist in Neurology (specialization “magna cum laude”). From 1984 to 1985 he was Post-doctoral Fellow of the Muscular Dystrophy Association of America and then Research Scientist at H. Houston Merritt Clinical Research Centre for Muscular Dystrophy and Related Diseases, Columbia University, New York, NY, USA. He obtained a PhD award in Genetics in 1997 at the University Paris V, Paris, France.
    Author of ≈350 scientific publications in peer-reviewed journals (H index 63).

Main achievements

    His main scientific interests concern the molecular mechanisms linking mitochondrial dysfunction to neurodegeneration, with the ultimate goal of developing effective therapy. He was first involved in this area of clinical and fundamental neuroscience as a post-doctoral fellow in New York. There he showed that sporadic mitochondrial Kearns-Sayre syndrome (KSS) is specifically associated with deletions of mitochondrial DNA. By studying families with mtDNA mutations that were transmitted as mendelian traits, he then proposed the existence of defects of intergenomic cross talk, a seminal concept in mitochondrial medicine, which led him to discover, in collaboration with several colleagues and friends, the main key-genes responsible for these conditions. He also participated in the identification of SMN, the spinal muscular atrophy gene, and of paraplegin, the first mitochondrial protein responsible of hereditary spastic paraplegia. He then discovered Surf1, the first and most frequent cause of Leigh’s syndrome, a devastating mitochondrial encephalopathy of infancy. Since then, he found a huge number of new genes associated with mitochondrial neurodegeneration, and characterized the corresponding proteins by in vivo modelling of human cells, yeast, flies and vertebrates. He recently started a new program on experimental therapy for mitochondrial neurodegeneration, based on pharmacological treatments, stem cell transplantation, and virus-driven gene replacement.

Employment History

    - 2013 – present: Director of the MRC Mitochondrial Biology Unit, Cambridge, UK
    - From 2011 to 2013: Director of the Department of Molecular Medicine at the Istituto Neurologico “Carlo Besta”, Milan (Italy)
    - From 2003 to 2013: Director of the Unit of Molecular Neurogenetics at the Istituto Neurologico “Carlo Besta”
    - From 1998 to 2002: Director of the Unit of Biochemistry and Genetics at the Istituto Neurologico “Carlo Besta”.
    - From 1996 to 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.
    - From 1993 to 1996: Associate of Neurology at the Istituto Neurologico "C. Besta", Milan (Italy)
    - From 1990 to 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.

    Awards and Honors
    - INSERM Post Vert Award for Visiting Researchers, 1994
    - Anita Harding Memorial Lecture, IX° Meeting of the European Neurological Society, June 1998
    - Brain Award for Research in Neurogenetics, May 2000
    - E.U. René Descartes Prize for trans−national research in Europe, Prague, December 2004
    - “Gaetano Conte” prize awarded by the Mediterranean Society of Myology, 2009
    - The Sir William Dunn Scholars' programme MBU, MRC Cambridge, 2008
    - Prix de la Fondation NRJ 2013 (Institut de France) « Génétique des maladies dégénératives » - June 2013


    1. Pirinen E, Cantó C, Jo YS, Morato L, Zhang H, Menzies KJ, Williams EG, Mouchiroud L, Moullan N, Hagberg C, Li W, Timmers S, Imhof R, Verbeek J, Pujol A, van Loon B, Viscomi C, Zeviani M, Schrauwen P, Sauve AA, Schoonjans K, Auwerx J.
    Pharmacological Inhibition of Poly(ADP-Ribose) Polymerases Improves Fitness and Mitochondrial
    Function in Skeletal Muscle. Cell Metab. 2014 May 7

    2. Cerutti, R., Pirinen, E. J., Lamperti, C., Marchet, S., Sauve, A. A., Li, W., Leoni, V., Schon, E. A., Dantzer, F., Auwerx, J., Viscomi, C & Zeviani, M. (2014).
    NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial
    Disease. Cell Metab., 19, 1-8.

    3. Torres-Torronteras, J., Viscomi, C., Cabrera-Pérez, R, Cámara, Y., Di Meo, I., Barquinero, J., Auricchio, A., Pizzorno, G., Hirano, M.i Zeviani & Martí, R. (2014).
    Gene Therapy Using a Liver-targeted AAV Vector Restores Nucleoside and Nucleotide Homeostasis in
    a Murine Model of MNGIE - Mol Ther. 2014 May;22(5):901-7

    4. Carla Giordano, C., Iommarini, L., Giordano, L., Maresca, A., Pisano, A., Valentino, M. L., Caporali, L., Liguori, R., Deceglie, S., Roberti, M., Fanelli, F., Fracasso, F., Ross-Cisneros, F. N., D’Adamo, P., Hudson, G., Pyle, A., Yu-Wai-Man, P., Chinnery, P. F., Zeviani, M., Salomao, S. R., Berezovsky, A., Belfort Jr, R., Ventura, D. F., Moraes, M., Filho, M. M., Barboni, P., Sadun, F., De Negri, A., Sadun, A. A., Tancredi, A., Mancini, M., d’Amati, G.,M., Polosa, P.L., Cantatore, P & Carelli, V. (2013). Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy - Brain 1, 1-19.

    5. Gai, X., Ghezzi, D., Johnson, M.A., Biagosch, C. A., Shamseldin, H.E., Haack, T. B., Reyes, A., Tsukikawa, M. Sheldon, C.A., Srinivasan, S., Gorza, M., Kremer, L. S., Wieland, T., Strom, T. M., Polyak, E., Place, E., Consugar, M., Ostrovsky, J., Vidoni, S., Robinson, A.J., Wong, L.-J., Sondheimer, N., Salih, M. A., Al-Jishi, E.l, Raab, C. P., Bean, C., Furlan, F., Parini, R., Lamperti, C., Mayr, J. A., Konstantopoulou, V., Huemer, M., Pierce, E.A. Meitinger, T., Freisinger, P., Sperl, W., Prokisch, H., Alkuraya, F. S. , Falk, M. J &., Zeviani, M. (2013).
    Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial
    Encephalomyopathy - Am. J. Hum.Gen 93, 482-495.

Selected Recent Publications

last update - May 2018

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