Subject

Cellular and Molecular Pathology

  • code 13482
  • course 1
  • term Semester 2
  • type OB
  • credits 4

Matter: BASES OF PATHOLOGY

Main language of instruction: Spanish

Other languages of instruction: Catalan, English

Teaching staff

Introduction

Pathology, which involves the study of structural, molecular and functional changes of cells, tissues and organs, allows us to understand the underlying causes of different disease processes. 

Before studying the physiopathology of different systems, it is essential to know about changes at the cellular and molecular level that will give rise to a certain systemic pathology. The course is designed to acquire knowledge about the molecular and cellular basis that defines the pathology, as well as the principles and types of fundamental mechanisms that cells use in responses to stress, the techniques required to study these aspects and the latest advances in this specific field of Biomedicine.

Pre-course requirements

Basic knowledge of biochemistry, cellular biology and molecular biology.

Objectives

The objective of this subject is that, at the end of it, students will understand the main molecular and cellular processes that govern the pathological state.

Learning outcomes of the subject


At the end of the course, students will have: 
  • Acquired an integrated view of cellular structures at the molecular, structural and functional level with regards to human pathology. 
  • Identified the characteristics of tissues at the cellular and molecular level in different situations of injury, adaptation and cell death.

Syllabus

Topic 1: introduction to molecular and cellular pathology.

  • Definition of pathology definition.
  • Pathology competences.
  • Historical evolution of pathology.

BLOCK II: MOLECULAR PATHOLOGY

Topic 2: Fundamentals of molecular pathology.

  • Basics of molecular pathology.
  • Macromolecules: structure and information.
  • Protein functions: Structural proteins, enzymes, receptors and transporters.
  • Monogenic, polygenic and complex diseases. Genetic susceptibility to acquired disease.

Topic 3: Types of molecular pathologies (I).

  •  Alterations of enzymes. General concepts. Recessive transmission. Phenylketonuria. Lysosomal storage diseases.
  • Structural protein alterations. General concepts. Dominant / recessive transmission. Imperfect osteogenesis. Muscular dystrophies. Heredity linked to the X chromosome
  • Membrane protein alterations: receptors, channels and transporters. General concepts. Success of the positional strategy. Cystic fibrosis. Familial hypercholesterolemia.
  • Alterations associated with damage to DNA and RNA. Germinal and somatic alterations. Mutation tumours in APC, FANC and BRCA. Splicing and microRNA alterations.
  • Pathologies associated with the depositing and degradation of proteins, lipids and sugars. Alzheimer's Gaucher's and Niemann-Pick, Gammopathies and Galactosemia.

Topic 4: Type of molecular pathologies (II)

  • Main intracellular signalling pathways. Proteins tyrosine kinase and phosphatases. Oncogenes and suppressor genes. Genomic stability. Proliferation, inhibition and response to cellular stress. Deregulation and involvement in cancer and other pathologies.
  • Control of the cell cycle. Cyclins and CDKs. Deregulation of the cycle and involvement in cancer. 

Topic 5: Molecular pathology of infectious diseases.

  •  Genomes of infectious agents. Virulence and antibiotic resistance mechanisms. Retroviral. The impact of retrotransposons on the human genome. 

BLOCK III: CELL PATHOLOGY

Topic 6: Subcellular alterations. 

  • Accumulation of biomolecules. Alterations of lysosomal catabolism; of endoplasmic, mitochondrial and cytoskeletal retinitis.

Topic 7: Cell death

  • Apoptosis, necrosis and others. Autophagy. Genetic bases of cell death. C. elegans as a study model.

Topic 8: Senescence and cellular aging. 

  • Characteristics. Theories. Stem cells.

Topic 9: Neoplasms. 

  • The characteristics of tumour cells. Types of tumours. Metastatic capacity and routes of dissemination  

BLOCK IV: TECHNIQUES IN MOLECULAR AND CELLULAR PATHOLOGY

Topic 10: Study models in cellular and molecular pathology.

In vitro studies: cell lines, 2D / 3D cultures, tumoroids and organoids. In vivo studies in animal models.

Topic 11: Cellular diagnosis. 

  • Healthy cells vs. altered cells. 

Topic 12: Molecular diagnosis (I). 

  • Molecular marker evaluation techniques. Massive sequencing techniques (NGS). 

Topic 13: Molecular diagnosis (II). 

  • Molecular markers. Basic concepts of sensitivity and specificity, ROC curves, survival curves (HR, OS, DFS and Kaplan-Meir).

Topic 14: Molecular diagnosis (III): From mutation to the disease. 

  • Germinal and somatic alterations. Population studies.

Teaching and learning activities

Evaluation systems and criteria

Evaluation period

E: exam date | R: revision date | 1: first session | 2: second session:

  • E1 22/05/2020 14:00h
  • E2 23/06/2020 14:00h
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