Biochemical Mechanisms of Human Disease

This module may only be taken by Medical Biochemistry students.

Module code: MB3001

Module co-ordinator: Dr Mark Leyland

Module Aims

This module has three aims: to develop knowledge of the experimental approaches used to investigate human disease, to develop skills in researching the scientific literature and to give students an understanding of how to evaluate a scientific paper.

Learning Outcomes

On completion of this module students should be able to:

  • Describe the factors that are involved in the development of inflammation and asthma.
  • Describe the molecular basis of complement activation and its role in disease.
  • Summarise the biochemical evidence linking changes in signalling pathways to hypertrophic growth in the failing heart.
  • Describe how mutations in sarcomeric and cytoskeletal proteins contribute to the development of cardiomyopathies.
  • Discuss the molecular basis of laminopathies.
  • Conduct a literature research project, and write a critical appraisal of the subject.
  • Critically evaluate scientific papers.

Module Description

  • Lecture 1 (Dr Leyland): introduction to biochemical mechanisms of human disease.
  • Lectures 2-7 (Dr Lodwick): the aim of these lectures is to give a detailed picture of the mechanisms by which inflammation is initiated and controlled, and to look at how immune cells leave the circulation. Asthma will be used as a model to illustrate how the mix of infiltrating cells varies according to the stage of the disease process and the type of inflammatory stimulus involved.
  • Lectures 8-12 (Dr Wallis): the complement cascade is an important part of the immune system. Normally it neutralises pathogens and helps to stimulate other parts of the immune system. However, inherited deficiencies or inappropriate activation can lead to immunodeficiency, inflammatory disorders and damage of host tissues. These lectures will describe the complement cascade and then focus on the main types of complement-associated disease.
  • Lectures 13-18 (Dr Leyland): the development of heart failure is characterised by hypertrophic cardiac growth in response to chronic biomechanical stress. We will examine the biochemical evidence that has led to our current understanding of this disease. The lectures will focus on the role of signalling pathways in the development of cardiac hypertrophy and how apoptosis is thought to be an important factor in the progression of heart failure. We will also discuss the molecular basis for the treatment of this disease and how new therapeutic strategies may become important.
  • Lectures 19-25 (Dr El-Mezgueldi): Genetic Dilated and Hypertrophic cardiomyopathies are characterised by a noticeable change in the heart morphology and contractile dysfunction. The genetics of these cardiomyopathies have been strongly established and most mutations have been found in structural and contractile proteins. In these lectures we will consider how protein dysfunction can cause abnormal organ function and ultimately lead to a disease. We will also discuss the techniques used to investigate the molecular basis of cardiomyopathies.
  • Lectures 26-29 (Dr Shackleton): laminopathies are a highly variable group of disorders that are all caused by mutations in components of the nuclear lamina, most noteably lamins A and C. These diseases include muscular dystrophies, neuropathy, lipodystrophy and premature ageing syndromes. In most cases, the reasons why different mutations in the same protein can result in such varied phenotypes are poorly understood. These lectures will begin with a description of the disease phenotypes and corresponding gene mutations, then examine the evidence that is beginning to reveal potential disease mechanisms, focussing on premature ageing and muscular dystrophy.

There will be four tutorials based around the topics covered in lectures. A help session will be scheduled before the final examination.


Examination: 70%, where the student will write three essays from a choice of six.

Continuous assessment: 30%, comprising tutorial questions (20%) and an essay (10%).

Recommended Reading

Lists of original research articles and reviews will be given during the module.


This module is only available to Medical Biochemistry students.