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


*** Resit Exam is Not Administered in Institutions Where Resit is not Applicable.

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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