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Trevisson, Eva (2008) Genetic bases and experimental models for the study of inherited metabolic diseases. [Tesi di dottorato]

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Abstract (inglese)

Inherited metabolic diseases are genetic disorders caused by the alteration of a specific metabolic reaction. We focused on the study of the genetic bases of two main types of metabolic disorders, mitochondrial diseases and urea cycle defects. In this work, we report the characterization of novel genes that are potentially involved in mitochondrial respiratory chain defects: we identified three novel COX-assembly genes required for Cytochrome c Oxidase (COX) biogenesis and two novel genes involved in coenzyme Q biosynthesis.These genes represent new candidates to be screened in patients with isolated COX defect or primary coenzyme Q deficiency, without mutations in other known genes. We then studied a family affected by coenzyme Q deficiency and found a homozygous mutation in the COQ2 gene, this is the first report of a mutation in a ubiquinone biosynthetic gene. Moreover, we developed a C.elegans model of COX defect in order to study the pathogenesis of this disease. Finally, we performed a mutational screening in a cohort of patients affected by argininosuccininc aciduria and developed a functional complementation assay using S.cerevisiae strain to prove the pathogenesis of the novel mutations; we also established some genotype-phenotype correlations.

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Tipo di EPrint:Tesi di dottorato
Relatore:Salviati, Leonardo
Correlatore:Salviati, Leonardo
Dottorato (corsi e scuole):Ciclo 20 > Scuole per il 20simo ciclo > MEDICINA DELLO SVILUPPO E SCIENZE DELLA PROGRAMMAZIONE > MALATTIE RARE
Data di deposito della tesi:Gennaio 2008
Anno di Pubblicazione:Gennaio 2008
Parole chiave (italiano / inglese):Mitochondrial diseases, mitochondrial respiratory chain, cytochrome c oxidase, coenzyme Q10, argininosuccinic aciduria, argininosuccinic lyase
Settori scientifico-disciplinari MIUR:Area 06 - Scienze mediche > MED/03 Genetica medica
Struttura di riferimento:Dipartimenti > Dipartimento di Pediatria
Codice ID:175
Depositato il:30 Ott 2008
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