Carlo Viscomi

Carlo Viscomi

Carlo Viscomi

Associate Professor – Department of Biomedical Science and Padua Neuroscience Center (PNC)

Phone: 049/7923277
Email: carlo.viscomi@unipd.it
Address: Department of Biomedical Sciences - A. Vallisneri
V floor - North wing
Via Ugo Bassi 58/B, Padova 35131

Research description

I entered the mitochondrial medicine field in 2004 working at at the Neurological Institute “C. Besta” in Milan, Italy. In 2013 I moved to the University of Cambridge, UK as senior scientist. In 2020 I moved to the University of Padova as Associate Professor of Genetics. My research focuses on translational aspects of mitochondrial diseases with the ultimate goals of clarifying the biological basis of these conditions and developing innovative and effective therapies. My main achievements have been (i) the discovery of the pathogenetic mechanism of ethylamalonic encephalopathy (EE) (Tiranti et al, Nat Med, 2009) (ii) the development of a therapy based on N-acetylcysteine and metronidazole for the treatment of EE in mice and patients (Viscomi et al, Nat Med, 2010) (iii) the discovery that the stimulation of mitochondrial biogenesis was effective in ameliorating mitochondrial myopathies (Viscomi et al, Cell Metab, 2011; Cerutti et al, Cell Metab, 2013) (iv) the development of AAV-mediated gene therapies to treat mitochondrial diseases (Di Meo et al, EMBO Mol Med, 2012; Torres-Torronteras et al, Mol Ther, 2014, Bottani et al, Mol Ther, 2014, Di Meo et al, Gene Therapy, 2017, Pinheiro et al, Mol Ther, 2020). In collaboration with Michal Minczuk, MBU, Cambridge, UK, I develop an AAV-based approach to correct specific mtDNA mutations through the use of Zinc-finger Nucleases (Gammage et al Nat Med, 2018).

Other studies that we carried out in my laboratory were aimed at studying the possibility of by-passing respiratory chain defects through the use of alternative oxidases (Dogan et al, Cell Metab, 2018), defining the mechanism by which rapamycin improves the phenotype of various mouse models of mitochondrial disease (Civiletto et al, EMBO Mol Med 2018), and the possibility to shape mitochondrial cristae to correct mitochondrial defects (Civiletto et al, Cell Metab, 2015; Luna-Sanchez et al, Mol Ther, 2020)

 

Relevant publications

Zeviani M, Viscomi C. Mitochondrial Neurodegeneration. Cells. 2022 Feb 11;11(4):637. doi: 10.3390/cells11040637. PMID: 35203288; PMCID: PMC8870525
Silva-Pinheiro P, Pardo-Hernández C, Reyes A, Tilokani L, Mishra A, Cerutti R, Li S, Rozsivalova DH, Valenzuela S, Dogan SA, Peter B, Fernández-Silva P, Trifunovic A, Prudent J, Minczuk M, Bindoff L, Macao B, Zeviani M, Falkenberg M, Viscomi C. DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion. Nucleic Acids Res. 2021 May 21;49(9):5230-5248. doi: 10.1093/nar/gkab282.
Luna-Sanchez M, Benincá C, Cerutti R, Brea-Calvo G, Yeates A, Scorrano L, Zeviani M, Viscomi C. Opa1 Overexpression Protects from Early-Onset Mpv17-Related Mouse Kidney Disease. Mol Ther. 2020 Aug 5;28(8):1918-1930. doi: 10.1016/j.ymthe.2020.06.010. Epub 2020 Jun 12. PMID:32562616; PMCID: PMC7403474.
Silva-Pinheiro P, Cerutti R, Luna-Sanchez M, Zeviani M, Viscomi C. A Single Intravenous Injection of AAV-PHP.B-hNDUFS4 Ameliorates the Phenotype of <i>Ndufs4</i><sup>-/-</sup> Mice. Mol Ther Methods Clin Dev. 2020 May 4;17:1071-1078. doi: 10.1016/j.omtm.2020.04.026. PMID: 32478122; PMCID: PMC7248291
Dogan SA, Cerutti R, Benincá C, Brea-Calvo G, Jacobs HT, Zeviani M, Szibor M, Viscomi C. Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy. Cell Metab. 2018 Nov 6;28(5):764-775.e5. doi: 10.1016/j.cmet.2018.07.012. Epub 2018 Aug 16. PMID: 30122554; PMCID: PMC6224544.
Civiletto G, Dogan SA, Cerutti R, Fagiolari G, Moggio M, Lamperti C, Benincá C, Viscomi C, Zeviani M. Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis. EMBO Mol Med. 2018 Nov;10(11):e8799. doi: 10.15252/emmm.201708799. PMID: 30309855; PMCID: PMC6220341.
Gammage PA, Viscomi C, Simard ML, Costa ASH, Gaude E, Powell CA, Van Haute L, McCann BJ, Rebelo-Guiomar P, Cerutti R, Zhang L, Rebar EJ, Zeviani M, Frezza C, Stewart JB, Minczuk M. Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo. Nat Med. 2018 Nov;24(11):1691-1695. doi: 10.1038/s41591-018-0165-9. Epub 2018 Sep 24. PMID: 30250142; PMCID: PMC6225988.
Civiletto G, Varanita T, Cerutti R, Gorletta T, Barbaro S, Marchet S, Lamperti C, Viscomi C, Scorrano L, Zeviani M. Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models. Cell Metab. 2015 Jun 2;21(6):845-54. doi: 10.1016/j.cmet.2015.04.016. PMID: 26039449; PMCID: PMC4457891.
Civiletto G, Varanita T, Cerutti R, Gorletta T, Barbaro S, Marchet S, Lamperti C, Viscomi C, Scorrano L, Zeviani M. Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models. Cell Metab. 2015 Jun 2;21(6):845-54. doi: 10.1016/j.cmet.2015.04.016. PMID: 26039449; PMCID: PMC4457891.
Viscomi C, Burlina AB, Dweikat I, Savoiardo M, Lamperti C, Hildebrandt T, Tiranti V, Zeviani M. Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. Nat Med. 2010 Aug;16(8):869-71. doi: 10.1038/nm.2188. Epub 2010 Jul 25. PMID: 20657580.
 
 

Fundings