COURSE UNIT TITLE

: CELLULAR AND MOLECULAR MECHANISMS OF HUMAN DISEASE

DEGREE PROGRAMMES

Description of Individual Course Units

Course Unit Code Course Unit Title Type Of Course D U L ECTS
TBG 6109 CELLULAR AND MOLECULAR MECHANISMS OF HUMAN DISEASE ELECTIVE 3 0 0 10

Offered By

Medical Biology and Genetics

Level of Course Unit

Third Cycle Programmes (Doctorate Degree)

Course Coordinator

ASSOCIATE PROFESSOR ZEYNEP YÜCE

Offered to

Medical Biology and Genetics

Course Objective

*To acquire advance knowledge on phenotypic outcomes of various pathologies of cellular structure, function and cellular/intracellular processes
* To discuss the reflections of organelle/ molecule pathology on the organism.
*To conceptually understand the cellular and molecular basis of disease

Learning Outcomes of the Course Unit

1   Knows that structural or functional defects of organelles results in a wide plethora of pathologies at the system level and discusses the effects on the organism.
2   Cellular disorders of the organism may be influenced by what way are discussed
3   Understands and explains that defects in basic structure and function of cells will have a role in the etyopathogenesis of very different diseases
4   Knows and explains with examples that a defect in the same cellular/molecular mechanism may result in different diseases with different symptoms.
5   Discusses new therapeutic strategies based on the reversion of the underlying cellular/molecular pathology or normalising its phenotypic effect

Mode of Delivery

Face -to- Face

Prerequisites and Co-requisites

None

Recomended Optional Programme Components

None

Course Contents

Week Subject Description
1 Introduction The concepts of homeostasis, disease and molecular pathogenesis
2 Review of the fine structure of the cell Review of signal transduction and signal transduction pathways
3 Replication defects, mitosis/meiosis defect (Disease examples: the concept of dynamic mutation, genetic anticipation, triple repeat diseases, structural and numerical chromosomal abnormalities)
4 Defects in transcriptional regulation and post transcriptional modifications (Disease examples: Autoimmune diseases and immune deficiencies associated with HLA expression, hemaglobinopathies as an example for splicing defects)
5 Defects in translational regulation and post translational modifications (Disease examples: glycolisation defects, progeroid syndromes)
6 Defect of the endoplasmic reticulum, Golgi, lizosome secretion pathway (Disease examples: ER stress, ER & lizosomal storage diseases, prion diseases, glycolysation defects, Zellweger Syndrom)
7 Defects of the cell membrane and function (Disease examples: cystic fibrosis, Alzheimer, hyaline membrane disease, retinal degeneration, cholesterol & lipid rafts)
8 MID-TERM EXAM
9 Defects of the cell skeleton: microfilaments, intermediate filaments, microtubules, cilia, sterecilia structure & function (Disease examples: Chediak-higashi Syndrom, sterility, taupathies, keratin and liver pathologies, myopathies, sickle cell anemia)
10 Defects in mitochondrial structure & function (Disease examples: LHON)
11 Defects in cell cycle regulation (Disease examples: cancer, benign tumors, endometriosis) Defects in cell death mechanisms (Disease examples: motor neuron diseases, cerebellar degeneration, immune reactions, AIDS, cancer)
12 Defects of the ECM structure & function (Disease examples: osteogenesis imperfecta, Ehler Danlos and Marfan syndromsı, fibrosis, vascular diseases)
13 Defects of cell junction structure & function (Disease examples: deafness, infertility, tissue repair and regeneration, arthritis, cirrhosis, metastasis, gastrointestinal track pathologies)
14 Defects in protein degradation (Disease examples: chronic inflammatory diseases, neurodegenerative diseases)
15 Defects in multiple cellular/molecular structure and functions (Disease examples: DM, hypertension )

Recomended or Required Reading

1. Hücre, Moleküler Yaklaşım, (The Cell, A Molecular Approach 2nd edition Geoffey M. Cooper, Robert E. Hausman.) Çeviri Editörleri: Meral Sakızlı, Neşe Atabey. Izmir Tıp Kitabevi, ISBN: 9944-5148-0-2, Ankara 2006 .
2. Hücrenin Moleküler Biyolojisi, (Molecular Biology of the Cell,4th Edition. Ed. Bruce Alberts, Alexander Johnson, Julian Lewis, Martin Raff, Keith Roberts, Peter Walter. Garland Publishers) Çeviri Editörleri: Nur Buyru, Nejat Dalay, Meral Özgüç, Mehmet Öztürk, Meral Sakızlı, ISBN: 978-9944-252-22-5, TÜBA ders kitapları, 2008
3. Molecular Cell Biology, Lodish H, Berk A, Matsudaira P, Kaiser CA, Krieger M, Scott MP, Zipursky L, Darnell J. W. H. Freeman; 6th edition,2007

Planned Learning Activities and Teaching Methods

Lectures: Basic theoretical concepts will be explained during lectures
Interactive discussion: Students are expected to read relevant literature on the course topics, and participate in the discussion after the topic lecture.

Homework: Students are expected to hand in 2 written reports on topics that are given by the course coordinator.
Oral Presentation: Students are expected to give a oral presentation on a topic decided with the course coordinator

Assessment Methods

SORTING NUMBER SHORT CODE LONG CODE FORMULA
1 MTE MIDTERM EXAM
2 ASG ASSIGNMENT
3 PAR PARTICIPATION
4 FIN FINAL EXAM
5 FCGR FINAL COURSE GRADE MTE * 0.30 + ASG * 0.20 +PAR* 0.10 + FIN*0.40
6 RST RESIT
7 FCGR FINAL COURSE GRADE (RESIT) MTE * 0.30 + ASG * 0.20 +PAR* 0.10 + RST*0.40

Further Notes About Assessment Methods

None

Assessment Criteria

To be announced.

Language of Instruction

Turkish

Course Policies and Rules

To be announced.

Contact Details for the Lecturer(s)

Tel: 412 4623 E-posta: zeynep.sercan@deu.edu.tr

Office Hours

Wednesday s 15:30-17:00

Work Placement(s)

None

Workload Calculation

Activities Number Time (hours) Total Work Load (hours)
Lectures 15 3 45
Preparation for midterm exam 1 10 10
Preparation for final exam 1 7 7
Preparation for quiz etc. 2 6 12
Preparations before/after weekly lectures 13 3 39
preparation of oral presentation 7 4 28
Interactive discussion (including oral presentations) 15 4 60
article preparation 6 4 24
preparing individual assignments 7 2 14
Midterm 1 3 3
Final 1 3 3
Quiz etc. 2 3 6
TOTAL WORKLOAD (hours) 251

Contribution of Learning Outcomes to Programme Outcomes

PO/LOPO.1PO.2PO.3PO.4PO.5PO.6PO.7PO.8PO.9
LO.11234
LO.21234
LO.31234
LO.41234
LO.51234

CONTACT INFORMATION
Dokuz Eylül Üniversitesi Cumhuriyet Bulvarı No: 144 35210 Alsancak / İZMİR
Phone: +90(232) 412 12 12 - Fax: +90 (232) 464 81 35

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