ACAD9 (acyl-CoA dehydrogenase 9) is a mitochondrial flavoprotein that plays an important role in cellular metabolism by catalyzing the first reaction of beta oxidation of long-chain fatty acids and promoting the assembly of complex I of the electron transport chain. Mutations in the ACAD9 protein sequence can lead to pathological deficits of the protein resulting in extensive symptoms, often leading to premature death. Starting from the state of the art, this project aims to predict some three-dimensional mutated protein structures using the Alphafold software, to observe the consequences of the aforementioned mutations at a chemical level, comparing them with the wild-type protein structure of ACAD9. After prediction using Alphafold, the proteins were analyzed using the biomolecule visualization program ChimeraX under various aspects, to highlight the consequences at a structural, electrostatic level or interactions between amino acid residues.
ACAD9 (acil-CoA deidrogenasi 9) è una flavoproteina mitocondriale che svolge un ruolo importante nel metabolismo cellulare catalizzando la prima reazione della beta ossidazione degli acidi grassi a lunga catena e favorendo l’assemblaggio del complesso I della catena di trasporto degli elettroni. Mutazioni a livello della sequenza proteica di ACAD9 possono portare a deficit patologici della proteina che comportano una sintomatologia estesa, che spesso conduce al decesso prematuro. Partendo dallo stato dell’arte, questo progetto mira a predire alcune strutture tridimensionali proteiche mutate tramite il software Alphafold, per osservare le conseguenze di suddette mutazioni a livello chimico, confrontandole con la struttura proteica wild-type di ACAD9. Dopo la predizione tramite Alphafold le proteine sono state analizzate tramite il programma di visualizzazione di biomolecole ChimeraX sotto vari aspetti, per evidenziare le conseguenze a livello strutturale, elettrostatico o di interazioni tra residui amminoacidici.
I deficit mitocondriali di Acil-CoA deidrogenasi 9 (ACAD9) causati da mutazioni genetiche: un'analisi strutturale comparativa
LION, BEATRICE
2023/2024
Abstract
ACAD9 (acyl-CoA dehydrogenase 9) is a mitochondrial flavoprotein that plays an important role in cellular metabolism by catalyzing the first reaction of beta oxidation of long-chain fatty acids and promoting the assembly of complex I of the electron transport chain. Mutations in the ACAD9 protein sequence can lead to pathological deficits of the protein resulting in extensive symptoms, often leading to premature death. Starting from the state of the art, this project aims to predict some three-dimensional mutated protein structures using the Alphafold software, to observe the consequences of the aforementioned mutations at a chemical level, comparing them with the wild-type protein structure of ACAD9. After prediction using Alphafold, the proteins were analyzed using the biomolecule visualization program ChimeraX under various aspects, to highlight the consequences at a structural, electrostatic level or interactions between amino acid residues.File | Dimensione | Formato | |
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https://hdl.handle.net/20.500.12608/70537