Genomes and Genes
Affiliation: Foundation IRCCS Institute of Neurology "Besta"
Location: Milan, Italy
The main interest of Dr. Ghezzi is the discovery of new genes responsible for mitochondrial disorders and the characterization of their role. These disorders are very heterogeneous and hence the diagnosis is often difficult. Moreover mitochondrial dysfunctions are now clearly related to a wide range of disease conditions, above all neurodegeneration (i.e. Parkinsons disease).
- Ghezzi D, Saada A, d Adamo P, Fernandez Vizarra E, Gasparini P, Tiranti V, et al. FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. Am J Hum Genet. 2008;83:415-23 pubmed publisher..The corresponding protein is localized in the mitochondrial inner compartment. Preliminary data indicate that FASTKD2 plays a role in mitochondrial apoptosis. ..
- Uziel G, Ghezzi D, Zeviani M. Infantile mitochondrial encephalopathy. Semin Fetal Neonatal Med. 2011;16:205-15 pubmed publisher..e. the mitochondrial respiratory chain. ..
- Ghezzi D, Marelli C, Achilli A, Goldwurm S, Pezzoli G, Barone P, et al. Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. Eur J Hum Genet. 2005;13:748-52 pubmed..Our study suggests that haplogroup K might confer a lower risk for PD in Italians, corroborating the idea that the mitochondrial oxidative phosphorylation pathway is involved in the susceptibility to idiopathic PD. ..
- Ghezzi D, Arzuffi P, Zordan M, Da Re C, Lamperti C, Benna C, et al. Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet. 2011;43:259-63 pubmed publisher..TTC19 is a putative cIII assembly factor whose disruption is associated with severe neurological abnormalities in humans and flies. ..
- Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T, Lochmuller H, et al. SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet. 2009;41:654-6 pubmed publisher..SDHAF1 is the first bona fide SDH assembly factor reported in any organism. ..
- Sironi F, Primignani P, Zini M, Tunesi S, Ruffmann C, Ricca S, et al. Parkin analysis in early onset Parkinson's disease. Parkinsonism Relat Disord. 2008;14:326-33 pubmed publisher..735delT (p.C212/X224) and c.815C>G (p.C238W). Genotype-phenotype correlation revealed that parkin carriers had features similar to those of non-carrier early onset Parkinson disease patients. ..
- Romito L, Contarino M, Ghezzi D, Franzini A, Garavaglia B, Albanese A. High frequency stimulation of the subthalamic nucleus is efficacious in Parkin disease. J Neurol. 2005;252:208-11 pubmed..We confirm that the current inclusion criteria for STN HFS do not exclude patients carrying mutations in the parkin gene; their clinical outcome is comparable to that of the non-parkin group. ..
- Brea Calvo G, Haack T, Karall D, Ohtake A, Invernizzi F, Carrozzo R, et al. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am J Hum Genet. 2015;96:309-17 pubmed publisher..COQ4 mutations are responsible for early-onset mitochondrial diseases with heterogeneous clinical presentations and associated with CoQ10 deficiency. ..
- Legati A, Reyes A, Nasca A, Invernizzi F, Lamantea E, Tiranti V, et al. New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies. Biochim Biophys Acta. 2016;1857:1326-1335 pubmed publisher..This article is part of a Special Issue entitled 'EBEC 2016: 19th European Bioenergetics Conference, Riva del Garda, Italy, July 2-6, 2016', edited by Prof. Paolo Bernardi. ..