Year 2 BMedSc Student Selected Science Project 2017/18

Name
Martyn Chidgey
Institute
Clinical Sciences

E-mail address
M.A.Chidgey@bham.ac.uk

Telephone
Number 4 6068

Project Title Desmosomes and disease

Outline of the Project (Brief paragraph on research area)

Desmosomes are intercellular junctions that are responsible for cell-cell adhesion in epithelia and cardiac
muscle. They are multimolecular complexes that consist of at least five proteins including a desmocollin, a
desmoglein, plakoglobin, a plakophilin and desmoplakin, and they are located at the cell membrane where
they act as anchors for intermediate filaments. Desmosomes maintain the structural integrity of tissues and
loss of desmosomal adhesion can have devastating consequences for human health. For example, pathogenic
autoantibodies that recognise desmogleins cause the skin blistering disease pemphigus, and cleavage of
desmoglein 1 following infection with the bacterium Staphylococcus aureus can cause Staphylococcus scalded
skin syndrome. Mutations in desmosomal genes result in arrhythmogenic right ventricular cardiomyopathy, a
heart muscle disorder that is characterised by life-threatening arrhythmias and increased risk of sudden heart
failure. Cardiocutaneous syndromes that affect the skin, hair and heart are also caused by mutations in
desmosomal genes.