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Beggio, Marianna (2012) Caratterizzazione funzionale del gene CG18317 di Drosophila melanogaster in vivo ed in vitro. [Magistrali biennali]

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Abstract

Le malattie mitocondriali, note come encefalomiopatie mitocondriali, sono un ampio gruppo di patologie associate a difetti del metabolismo energetico mitocondriale, attribuibili, in particolare, a difetti nella fosforilazione ossidativa (Zeviani e Di Donato, 2004). Tali disordini dipendono da mutazioni che possono intervenire nel genoma mitocondriale e/o in quello nucleare (DiMauro e Shon, 2003). Difetti degli enzimi coinvolti nella replicazione del DNA mitocondriale (mtDNA) e sbilanciamenti nei pool nucleotidici necessari alla sintesi del mtDNA, portano ad errori nella sintesi e nel mantenimento del genoma mitocondriale, che si possono manifestare sotto forma di gravi malattie genetiche (Pontarin et al., 2003; DiMauro e Shon, 2008; Laenza et al., 2008). Sulla base dell’omologia con il gene Rim2 di lievito, che codifica per un trasportatore mitocondriale di nucleotidi pirimidinici RIM2 (Replication In Mitochondria 2) (Marrobbio et al., 2006), si è analizzato l’omologo in Drosophila melanogaster CG18317. Al fine di caratterizzare e identificare la funzione di questa proteina in Drosophila, si sono effettuati esperimenti sia in vivo, nell’organismo, sia in vitro, utilizzando le linee cellulari S2 ed S2R+. Questo gene è stato caratterizzato dal punto di vista morfologico (generazione di un ceppo di Drosophilaknock out per il gene, uso della microscopia elettronica e osservazione di linee cellulari di Drosophilain cui è stato silenziato il gene in questione) e biochimico (misurazione del consumo di ossigeno e analisi dei pool nucleotidici totali).

Tipologia del documento:Magistrali biennali
Parole chiave:Drosophila melanogaster, Mitocondri
Settori scientifico-disciplinari del MIUR:Area 05 - Scienze biologiche > BIO/18 Genetica
Codice ID:43230
Relatore:Zordan, Mauro Agostino
Data della tesi:2012
Biblioteca:Polo di Scienze > CIS "A. Vallisneri" - Biblioteca Biologico Medica
Tipo di fruizione per il documento:on-line per i full-text
Tesi sperimentale (Si) o compilativa (No)?:

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