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Tutto online il Corso sulle Malattie mitocondriali

Sarà interamente online il Corso “Malattie mitocondriali: 20 anni di storia”, che si svolgerà dal 22 al 24 settembre come FAD sincrona anziché come corso ibrido. Diretto dalla dr.ssa Barbara Garavaglia (Centro FM per lo studio delle Malattie mitocondriali pediatriche - UOC Genetica Medica e Neurogenetica della Fondazione Besta), il Corso avrà come relatori i maggiori esperti internazionali sull’argomento. L’obiettivo è aggiornare sugli aspetti più prettamente clinici, diagnostici e terapeutici e di gestione di pazienti affetti da queste complesse patologie, oltre che sulle ultime conoscenze nell’ambito dei meccanismi patogenetici e delle terapie avanzate (ad es. la terapia genica).

INFORMAZIONI -  ISCRIVITI

Presentiamo qui in anteprima l’abstract del prof. Massimo Zeviani dell’Università di Padova, che terrà una relazione dal titolo “Cosa sono le malattie mitocondriali”.

Mitochondrial disorders are amongst the most frequent inborn errors of metabolism, their primary cause being the dysfunction of the oxidative phosphorylation system (OXPHOS). OXPHOS is composed of the electron transport chain (ETC), formed by four multimeric enzymes (Complex I-IV) and two mobile electron carriers (Coenzyme Q and cytochrome c), plus an ATP synthase (also called complex V).

After stripping electrons from nutrients through metabolic processes including glycolysis, the TCA cycle and fatty- acid beta oxidation, electrons are conveyed to the ETC by redox compounds such as NAD+ and FAD.

The ETC determines electrons to flow through the respiratory chain complexes, thus performing the redox reactions involved in cellular respiration, ultimately exploiting electrons to reduce molecular oxygen into water. During the ETC-regulated electron flow, a proton motive force is generated by translocating protons from inside to the outside interfaces of the inner mitochondrial membrane, and eventually used by

complex V to synthesize ATP through the controlled dissipation of the gradient. OXPHOS biogenesis involves multiple steps, starting from the expression of genes encoded in physically separated genomes, namely the mitochondrial and nuclear DNAs, to the coordinated assembly of components and cofactors building each individual complex and eventually supercomplexes. Despite the substantial progress in genetic diagnosis of mitochondrial disorders, the gene mutations underlying around half of the diagnosed mitochondrial disease cases are currently unknown. Many of the genetically defined cases result from pathogenic variants in mitochondrial DNA- encoded genes, or in nuclear genes encoding structural subunits or additional factors directly involved in the assembly of the ETC complexes. Here I shall review the historical and most recent findings concerning the clinical phenotypes and the molecular pathological mechanisms underlying this particular group of disorders.

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