Mechanisms of Primary Lymphoedema
Research type
Research Study
Full title
Understanding the Mechanisms of Primary Lymphoedema in Patients with Identifiable Genetic Mutations
IRAS ID
154450
Contact name
P.S. Mortimer
Contact email
Sponsor organisation
St George's Healthcare NHS Trust
Research summary
Primary lymphoedema is a chronic swelling of the tissues, often affecting the legs but sometimes affecting the whole body. Lymphoedema is a lifelong and sometimes grossly disfiguring condition; it is difficult to treat, prone to complications such as infection, and poorly understood. Although labelled as one condition lymphoedema has been shown to be a collection of different forms. A diagnostic division of these different forms has recently been published by our group, showing how many types there are. The disorder is caused by gene mutations, and the mechanisms disrupted to produce the disease are different for each causative gene. The Lymphoedema Group at St George’s Hospital has identified five genes that when mutated produce lymphoedema in humans. The most recent of these genes to be identified are called 'GATA2' and 'KIF11'. Very little is known about how GATA2 mutations produce disease, and nothing for KIF11. For GATA2, what data there are come from mouse studies, and it is known for other genes that this does not necessarily mirror the condition in humans. The proposed five year project will investigate the roles of GATA2 and KIF11 in the function of the human lymphatic system, and how the genetic changes we have found in these genes produce the lymphatic disruption. As part of this body of work we will examine the structure and function of the lymphatic system in participants with lymphoedema due these genetic mutations. The veins will also be studied because the lymphatics and veins have a common developmental origin and venous disease also causes tissue swelling, often co-existing with lymphatic disease. The research will improve our understanding of what gives rise to lymphatic disease, and methods of treatment will develop from this.
REC name
London - Brighton & Sussex Research Ethics Committee
REC reference
14/LO/0753
Date of REC Opinion
1 Jul 2014
REC opinion
Further Information Favourable Opinion