The main interest of our laboratory has been the development of models to study the genetic bases and the pathophysiology of inherited neurometabolic disorders.
Since the introduction of next generation sequencing technologies, interpretation of genomic variants, their validation and predictions of possible effects on gene products have acquired a crucial importance and become one of the most relevant challenges in human genetics. What we have been mostly interested in is the setting up of simple models that allow to validate novel variants identified in patients affected by rare genetic diseases, but also to establish genotype-phenotype correlations and to analyze the molecular pathogenesis of these conditions. In this regard, we have successfully employed S. cerevisiae to analyze missense mutations in genes affecting fundamental cellular processes or mammalian cells in order to test the effects of genomic variants on transcript maturation.
More recently, we have moved to multicellular models, including C. elegans and D. rerio. These organisms represent simple highly prolific organisms with a rapid life cycle that display organized tissues and organs and allow studying the effects of novel variants on nervous system development.
Our interest is now moving to cancer genetics, and particularly to the study of the mechanisms driving pediatric cancers associated with a genetic predisposition. We are employing the same organisms to model germline mutations in oncosuppressors/oncogenes identified in rare tumor predisposing syndromes in order to deeply analyze cancerogenesis and to set up simple models for drug screening.
Cerqua Cristina PostDoctoral Researcher
Morbidoni Valeria PostDoctoral Researcher
Buson Lisa PostDoctoral Researcher
Morbidoni V, Agolini E, Slep KS, Pannone L, Zuccarello D, Cassina M, Grosso E, Gai G, Salviati L, Dallapiccola B, Novelli A, Martinelli S, Trevisson E. Biallelic mutations in TOGARAM1 gene cause a novel primary ciliopathy. Journal of Medical Genetics. In press. doi. 10.1136/jmedgenet -2020-106833.
Cerqua C, Casarin A, Pierrel F, Vazquez Fonseca L, Viola G, Salviati L, Trevisson E. Vitamin K2 cannot substitute Coenzyme Q10 as electron carrier in the mitochondrial respiratory chain of mammalian cells. Sci Rep. 2019;9:6553. doi: 10.1038/s41598-019-43014-y.
Trevisson E, Morbidoni V, Forzan M, Daolio C, Fumini V, Parrozzani R, Cassina M, Midena E, Salviati L, Clementi M. The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas. Mol Genet Genomic Med. 2019;7:e616. doi: 10.1002/mgg3.616.
Cerqua C, Morbidoni V, Desbats MA, Doimo M, Frasson C, Sacconi S, Baldoin MC, Sartori G, Basso G, Salviati L, Trevisson E. COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2. Biochim Biophys Acta Bioenerg. 2018;1859:244-252. doi: 10.1016/j.bbabio.2018.01.004. Epub.
Cassina M, Cerqua C, Rossi S, Salviati L, Martini A, Clementi M, Trevisson E. A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. Eur J Hum Genet. 2017;25(3):371-375.
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Fax: +39 049 9640101