Valeria Tiranti - Associate Professor
Department and institution: Unit of Medical Genetics and Neurogenetics, The Foundation of the Carlo Besta Neurological Institute, IRCCS
tel. +39 02 23942633
see also: ORCID, linkedin, PubMed, Center for the study of Mitochondrial Disorders of Infancy and Childhood
Lab's website: Struttura Semplice Patologia molecolare delle Malattie Mitocondriali
Keywords: mitochondria, neurodegeneration, experimental models
I (Valeria Tiranti) have a long−standing expertise in mitochondrial and metabolic disorders, including identification of disease genes, biochemical evaluation of the respiratory chain activities, molecular and cellular biology, and identification of pathogenetic mechanisms of diseases. My group performed the characterization of different mouse models and attempted pharmacological treatments in some of them.
Recently we started a series of experiments devoted to the generation of neurons by direct reprogramming of fibroblasts derived from patients affected by neurodegenerative diseases associated with mitochondrial dysfunctions. Moreover, we are generating induced pluripotent stem cells (iPSCs) from fibroblasts of patients affected by neurodegenerative diseases and genetic optic atrophy.
Main topics of the group
- animal models for neurodegenerative disorders
- iPS models for neurodegenerative and mitochondrial disorders
- therapeutic approaches
Current research projects
- 2018-2020 Mitocon Grant n. 2018-01:Project title: “Reproducing Leber’s hereditary optic neuropathy in neurons and organoids: light on pathogenic mechanisms to fight back blindness € 119.350.
- 2019-2021 Project from the Italian Ministry of Health (RF), Project title: “REtinal ganglion cells and ORganoids from Inherited Optic Neuropathies: light on pathogenesis to fight blindness Project (REORION), € 167.750. Partner Valerio Carelli and Vania Broccoli.
- 2020-2021 Fellowship sustained from Associazione Luigi Comini, Italy, € 44.000.
Internal and external collaborators
- Sonia Levi, Iron metabolism, San Raffaele Institute , Italy
- Vania Broccoli, iPSC generation, National Research Council, Italy
- Massimo Zeviani, Carlo Viscomi, Mitochondrial Disorders, MBU, Cambridge, UK, Padua University, Italy
- Susan Hayflick, NBIA, Oregon, USA
- Ody Sibon, CoA metabolism, Groeningen, NL
- Valerio Carelli, Mitochondrial Optic Atrophies, IRCCS Bellaria Neuroscience Institute, Italy
- Ivan Gout, CoA metabolism UCL, London, UK
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
J Clin Invest. 2020 Jan 2;130(1):108-125. doi: 10.1172/JCI128514.
Genetic Diagnosis of Mendelian Disorders via RNA Sequencing.
Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824.
Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration With Brain Iron Accumulation.
Am J Hum Genet. 2014 Jan 2;94(1):11-22. doi: 10.1016/j.ajhg.2013.11.008.
last update: July 2020