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Biologia applicataBiologia applicataBiologia applicataBiologia applicata

Prof.Prof.Prof.Prof. Cinzia Di PietroCinzia Di PietroCinzia Di PietroCinzia Di Pietro

Cinzia Di Pietro

095 – 3782077

Via S. Sofia 87

Pal. C - piano 2 - stanza 010

RECAPITI

dipietro@unict.it

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

Andrew Z. Fire Craig C. Mello

Stanford University

School of Medicine

University of Massachusetts

Medical School

RNA INTERFERENCE

This year's Nobel Prize in Physiology or Medicine isshared 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 thatdouble-stranded RNA triggers suppression of gene activityin 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 essentialcellular processes. Double-stranded RNA synthesized

within the cell can reduce or abolish gene activity by RNAi-like mechanisms. This control system for gene expressionhas 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 elementssilent. Today, double-stranded RNA is used as a powerfultool to experimentally elucidate the function of essentiallyany gene in a cell. The discovery of RNAi has alreadyhad an immense impact on biomedical research and will most likely lead to novel medical applications in

the future.

• GCGGCGGCGGGCGGGTACTGGCTTCTGGGGCCAGGGGCCAGGGGCGGTGGGCGCCGGGACCGCGGAGCTGAGGAGCGGGGCCCGGCCAGGGCTGGAGACTTTGCGCCCGGGGGCACCGGGGCTGCGCGCGGTCGCACACATCCACCGGCGCGGCTTCCCTCGGCGGCCCGGGCTCCGCTCATCCTGCGGCGGGCGGCGCCGCTCAGGGGCGGGAAGAGGAGGCGGTAGACGCGACCACAGAAGATGATGATGATGTCGGGCCAAACGCTCACGGATCGGATCGCCGCCGCTCAGTACAGCGTTACAGGCTCTGCTGTAGCAAGAGCGGTCTGCAAAGCCACTACTCATGAAGTAATGGGCCCCAAGAAAAAGCACCTGGACTATTTGATCCAGGCTACCAACGAGACCAATGTTAATATTCCTCAGATGGCCGACACTCTCTTTGAGCGGGCAACAAACAGTAGCTGGGTGGTTGTGTTTAAGGCTTTAGTGACAACACATCATCTCATGGTGCATGGAAATGAGAGATTTATTCAATATTTGGCTTCTAGAAATACACTATTCAATCTCAGCAATTTTTTGGACAAAAGTGGATCCCATGGTTATGATATGTCTACCTTCATAAGGCGCTATAGTAGATATTTGAATGAAAAGGCTTTTTCTTACAGACAGATGGCCTTTGATTTTGCCAGGGTGAAGAAAGGGGCCGATGGTGTAATGAGGACAATGGCTCCCGAAAAGCTGCTAAAGAGTATGCCAATACTACAGGGACAAATTGATGCACTGCTTGAATTTGATGTGCATCCAAATGAACTAACAAATGGTGTCATAAATGCAGCATTTATGCTTCTTTTCAAAGATCTTATCAAACTTTTTGCTTGCTACAATGATGGTGTTATTAACTTACTCGAAAAGTTTTTTGAAATGAAGAAAGGACAATGTAAAGATGCTCTAGAAATTTACAAACGATTTCTAACTAGAATGACACGAGTGTCTGAATTTCTCAAGGTTGCAGAGCAAGTTGGTATTGATAAAGGTGACATTCCTGACCTCACACAGGCTCCCAGCAGTCTTATGGAGACGCTTGAACAGCATCTAAATACATTAGAAGGAAAGAAACCTGGAAACAATGAAGGATCTGGTGCTCCCTCTCCATTAAGTAAGTCTTCTCCAGCCACAACTGTTACGTCTCCTAATTCTACACCAGCTAAAACTATTGACACATCCCCACCGGTTGATTTATTTGCAACTGCATCTGCGGCTGTCCCAGTCAGCACTTCTAAACCATCTAGTGATCTCCTGGACCTCCAGCCAGACTTTTCCTCTGGAGGGGCAGCAGCAGCCGCAGCACCAGCACCACCACCACCTGCTGGAGGAGCCACTGCATGGGGAGACCTTTTGGGAGAGGATTCTTTGGCTGCACTTTCCTCTGTTCCCTCTGAAGCACAGATTTCAGATCCATTTGCACCAGAACCTACCCCTCCTACTACAACTGCTGAAATTGCAACCACTACTGCTGCCACCGCCGCTGCCACCACCACTACCATTCATCTCTTGCCAGCTTAGTAGGCAATCTTGGAATTTCTGGTACCACAACAAAAAAGGGAGATCTTCAGTGGAATGCTGGAGAGAAAAAGTTGACTGGTGGAGCCAACTGGCAGCCTAAAGTAGCTCCAGCAACCTGGTCAGCAGGCGTTCCACCAAGTGCACCTTTGCAAGGAGCTGTACCTCCAACCAGTTCAGTTCCTCCTGTTGCCGGGGCCCCATCGGTTGGACAACCTGGAGCAGGATTTGGAATGCCTCCTGCTGGGACAGGCATGCCCATGATGCCTCAGCAGCCGGTCATGTTTGCACAGCCCATGATGAGGCCCCCCTTTGGAGCTGCCGCTGTACCTGGCACGCAGCTTTCTCCAAGCCCTACACCTGCCAGTCAGAGTCCCAAGAAACCTCCAGCAAAGGACCCATTAGCGGATCTTAACATCAAGGATTTCTTGTAAACAATTTAAGCTGCAATATTTGTGACTGAATAGGAAAATAAATGAGTTTGGAGACTTCAAATAATAATAATAAGATTGATGCTGAGTTTCAAAGGGAGCCACCAGTACCAAACCCAATACTTACTCATAACTTCTCTTCCAAAATGTGTAACACAGCCGTGAAAGTGAACATTAGGAATATGTACTACCTTAGCTGTTATCCCTACTCTTGAAATTGTAGTGTATTTGGATTATTTGTGTATTGTACGATGTAAACAATGAATGGATGTTACTGATGCCGTTAGTGCTTTTTTGGACTTCACCTGAGGACAGATGATGCAGCTGTTGTGTGGCGAGCTATTTGGAAAGACGTCTGTGTTTTTGAAGGTTTCAATGTACATATAACTTTTGAACAAACCCCAAACTCTTCCCATAAATTATCTTTTCTTCTGTATCTCTGTTACAAGCGTAGTGTGATAATACCAGATAATAAGGAAAACACTCATAAATATACAAAACTTTTTCAGTGTGGAGTACATTTTTCCAATCACAGGAACTTCAACTGTTGTGAGAAATGTTTATTTTTGTGGCACTGTATATGTTAAGAAATTTTATTTTAAAAAATATAAAGGTTAACGTCCATAATAAATACTTCTCTTTGAAGCTACCTTATCAAGAACGAAAAATCGTATGGGAAGAATCCCCTATTTATCACTGCTATATTAAAATATATATATTTTAATTATATTTGACAGGTTTTGCATCTAAATTGACCTATTTATTCATTCTTGATTAAATGCACTGAAAAGTAAAATTTAAAAGTGGTTGTATCTGAATTTACTGTGGGGATAACATACACTGTAATGGGGAAAAATTACCTAAAACCAATTTCAAAATGGCTTTCTTTGTATTTCAGTTTAAAAACCCAGTGCATGTACGCCCTCTGAGATGCAATAAACACCTTGAACAAAG

3*109 bp 150*106 bp 1-5*106 bp

Human Genome Project

Dogma centrale della Biologia

PROTEINEDNA RNA

Human Genome Project

1990 – 2001 – ………….

Studio delle malattie genetiche

15 15 15 15 FebruaryFebruaryFebruaryFebruary 2001200120012001

Tutte le malattie hanno una componente genetica

Malattie genetiche

Ad eredità mendelianaTalassemia, falcemia, fibrosi cistica

Fenotipi complessiNeoplasie, 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’EssenzialeZanichelli

• Chieffi et al Biologia e GeneticaEdises

• Campbell et al. L’essenziale di BiologiaPearson