Corso di Laurea in Scienze Motorie Biologia applicata Prof. Cinzia Di Pietro RECAPITI Cinzia Di Pietro [email protected] 095 – 3782077 Via S. Sofia 87 Pal. C - piano 2 - stanza 010 La cellula è l’unità fondamentale di tutti gli organismi viventi Tutti gli organismi viventi sono formati da cellule Non esiste alcuna forma di vita se non a livello cellulare The Nobel Prize in Physiology or Medicine 2006 RNA INTERFERENCE Andrew Z. Fire Craig C. Mello Stanford University University of Massachusetts School of Medicine Medical School This year's Nobel Prize in Physiology or Medicine is shared by Professor Andrew Z. Fire at Stanford University, California, USA, and Professor Craig C. Mello at the University of Massachusetts Medical School in Worcester, USA. They receive the prize for their discovery that double-stranded RNA triggers suppression of gene activity in a homology-dependent manner, a process named RNA interference (RNAi). Their discovery revealed a new mechanism for gene regulation, and the biochemical machinery involved plays a key role in many essential cellular processes. Double-stranded RNA synthesized within the cell can reduce or abolish gene activity by RNAilike mechanisms. This control system for gene expression has proven to be important for both the development of an organism and the physiological functions of cells and tissues. Furthermore, RNAi protects against RNA virus infections, especially in plants and invertebrate animals, and secures genome stability by keeping mobile elements silent. Today, double-stranded RNA is used as a powerful tool to experimentally elucidate the function of essentially any gene in a cell. The discovery of RNAi has already had an immense impact on biomedical research and will most likely lead to novel medical applications in the future. • GCGGCGGCGGGCGGGTACTGGCTTCTGGGGCCAGGGGCCAGGGGCGGTGGGCGCCGGGACCGCGGAGCTGAGGA GCGGGGCCCGGCCAGGGCTGGAGACTTTGCGCCCGGGGGCACCGGGGCTGCGCGCGGTCGCACACATCCACCGGC GCGGCTTCCCTCGGCGGCCCGGGCTCCGCTCATCCTGCGGCGGGCGGCGCCGCTCAGGGGCGGGAAGAGGAGGCG ATGTCGGGCCAAACGCTCACGGATCGGATCGCCGCCGCTCAGTACAGCGTTACAGGCT GTAGACGCGACCACAGAAGATG ATG CTGCTGTAGCAAGAGCGGTCTGCAAAGCCACTACTCATGAAGTAATGGGCCCCAAGAAAAAGCACCTGGACTATTTGAT CCAGGCTACCAACGAGACCAATGTTAATATTCCTCAGATGGCCGACACTCTCTTTGAGCGGGCAACAAACAGTAGCTGG GTGGTTGTGTTTAAGGCTTTAGTGACAACACATCATCTCATGGTGCATGGAAATGAGAGATTTATTCAATATTTGGCTTC TAGAAATACACTATTCAATCTCAGCAATTTTTTGGACAAAAGTGGATCCCATGGTTATGATATGTCTACCTTCATAAGGCG CTATAGTAGATATTTGAATGAAAAGGCTTTTTCTTACAGACAGATGGCCTTTGATTTTGCCAGGGTGAAGAAAGGGGCC GATGGTGTAATGAGGACAATGGCTCCCGAAAAGCTGCTAAAGAGTATGCCAATACTACAGGGACAAATTGATGCACTGC TTGAATTTGATGTGCATCCAAATGAACTAACAAATGGTGTCATAAATGCAGCATTTATGCTTCTTTTCAAAGATCTTATCA AACTTTTTGCTTGCTACAATGATGGTGTTATTAACTTACTCGAAAAGTTTTTTGAAATGAAGAAAGGACAATGTAAAGATG CTCTAGAAATTTACAAACGATTTCTAACTAGAATGACACGAGTGTCTGAATTTCTCAAGGTTGCAGAGCAAGTTGGTATT GATAAAGGTGACATTCCTGACCTCACACAGGCTCCCAGCAGTCTTATGGAGACGCTTGAACAGCATCTAAATACATTAG AAGGAAAGAAACCTGGAAACAATGAAGGATCTGGTGCTCCCTCTCCATTAAGTAAGTCTTCTCCAGCCACAACTGTTAC GTCTCCTAATTCTACACCAGCTAAAACTATTGACACATCCCCACCGGTTGATTTATTTGCAACTGCATCTGCGGCTGTCC CAGTCAGCACTTCTAAACCATCTAGTGATCTCCTGGACCTCCAGCCAGACTTTTCCTCTGGAGGGGCAGCAGCAGCCG CAGCACCAGCACCACCACCACCTGCTGGAGGAGCCACTGCATGGGGAGACCTTTTGGGAGAGGATTCTTTGGCTGCA CTTTCCTCTGTTCCCTCTGAAGCACAGATTTCAGATCCATTTGCACCAGAACCTACCCCTCCTACTACAACTGCTGAAAT TGCAACCACTACTGCTGCCACCGCCGCTGCCACCACCACTACCATTCATCTCTTGCCAGCTTAGTAGGCAATCTTGGAA TTTCTGGTACCACAACAAAAAAGGGAGATCTTCAGTGGAATGCTGGAGAGAAAAAGTTGACTGGTGGAGCCAACTGGC AGCCTAAAGTAGCTCCAGCAACCTGGTCAGCAGGCGTTCCACCAAGTGCACCTTTGCAAGGAGCTGTACCTCCAACCA GTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGCCTCCTGCTGGGACAG GCATGCCCATGATGCCTCAGCAGCCGGTCATGTTTGCACAGCCCATGATGAGGCCCCCCTTTGGAGCTGCCGCTGTAC CTGGCACGCAGCTTTCTCCAAGCCCTACACCTGCCAGTCAGAGTCCCAAGAAACCTCCAGCAAAGGACCCATTAGCGG ATCTTAACATCAAGGATTTCTTGTAAACAATTTAAGCTGCAATATTTGTGACTGAATAGGAAAATAAATGAGTTTGGAGAC TTCAAATAA TAAGATTGATGCTGAGTTTCAAAGGGAGCCACCAGTACCAAACCCAATACTTACTCATAACTTCTCTTCCAAAAT TAA GTGTAACACAGCCGTGAAAGTGAACATTAGGAATATGTACTACCTTAGCTGTTATCCCTACTCTTGAAATTGTAGTGTAT TTGGATTATTTGTGTATTGTACGATGTAAACAATGAATGGATGTTACTGATGCCGTTAGTGCTTTTTTGGACTTCACCTGA GGACAGATGATGCAGCTGTTGTGTGGCGAGCTATTTGGAAAGACGTCTGTGTTTTTGAAGGTTTCAATGTACATATAAC TTTTGAACAAACCCCAAACTCTTCCCATAAATTATCTTTTCTTCTGTATCTCTGTTACAAGCGTAGTGTGATAATACCAGA 9 6 6 TAATAAGGAAAACACTCATAAATATACAAAACTTTTTCAGTGTGGAGTACATTTTTCCAATCACAGGAACTTCAACTGTTG TGAGAAATGTTTATTTTTGTGGCACTGTATATGTTAAGAAATTTTATTTTAAAAAATATAAAGGTTAACGTCCATAATAAAT ACTTCTCTTTGAAGCTACCTTATCAAGAACGAAAAATCGTATGGGAAGAATCCCCTATTTATCACTGCTATATTAAAATAT ATATATTTTAATTATATTTGACAGGTTTTGCATCTAAATTGACCTATTTATTCATTCTTGATTAAATGCACTGAAAAGTAAAA TTTAAAAGTGGTTGTATCTGAATTTACTGTGGGGATAACATACACTGTAATGGGGAAAAATTACCTAAAACCAATTTCAAA ATGGCTTTCTTTGTATTTCAGTTTAAAAACCCAGTGCATGTACGCCCTCTGAGATGCAATAAACACCTTGAACAAAG Human Genome Project 3*10 bp 150*10 bp 1-5*10 bp Dogma centrale della Biologia DNA RNA PROTEINE Human Genome Project 1990 – 2001 – …………. 15 February 2001 Studio delle malattie genetiche Tutte le malattie hanno una componente genetica Ad eredità mendeliana Talassemia, falcemia, fibrosi cistica Malattie genetiche Fenotipi complessi Neoplasie, malattie degenerative Oltre alle classiche malattie genetiche, la risposta a stress ambientali, a virus, a tossine dipendono dal genoma individuale. Variazioni della sequenza del genoma quindi causano o contribuiscono all’insorgenza di malattie. Human Genome Project 1990 – 2001 – ……….. Studio delle malattie genetiche Diagnosi Cura Prevenzione MEDICINA MOLECOLARE Struttura e funzione della cellula • la cellula come base dell’organizzazione elementare della vita • composizione e struttura dei carboidrati, lipidi, acidi nucleici e proteine • principi di classificazione degli organismi viventi • virus (modalità di infezione, ciclo litico e ciclo lisogenico) • la cellula procariotica. Classificazione dei procarioti Organizzazione della cellula eucariotica • Le Membrane Cellulari • I Meccanismi di trasporto attraverso le membrane • Il Citoscheletro • Reticolo endoplasmatico liscio e rugoso, l’Apparato del Golgi, Lisosomi e Perossisomi • I Mitocondri • Il Nucleo • La Trasduzione del segnale Il gene eucariotico • • • • La Trascrizione La Sintesi proteica La Regolazione dell’espressione genica Le Mutazioni geniche Il ciclo cellulare • • • • La duplicazione del DNA La Mitosi e la Meiosi Lo Studio del Cariotipo I Meccanismi di Regolazione del Ciclo Cellulare • Il Fenotipo Neoplastico Ereditarietà • Eredità Mendeliana • Eredità associata al cromosoma X ed al cromosoma Y • Eredità Multifattoriale • Malattie genetiche Il Progetto Genoma Umano Libri di testo consigliati • Alberts e al. L’Essenziale Zanichelli • Chieffi et al Biologia e Genetica Edises • Campbell et al. L’essenziale di Biologia Pearson