Wnt signalling in Down’s Syndrome (WntSIDS)
Research type
Research Study
Full title
Purification of monocytes from peripheral blood for a study into Wnt signalling in Down’s Syndrome: Understanding Pulmonary Hypertension
IRAS ID
126981
Contact name
Robert Tulloh
Contact email
Sponsor organisation
UHBristol NHS Foundation Trust
Research summary
Children and adults with Down’s syndrome are more likely to develop high lung artery pressure (pulmonary hypertension). There are many reasons for this including congenital heart disease and upper airway obstruction. In addition, pulmonary hypertension may be caused by enhanced inflammation and proliferation within the pulmonary arteries. Down’s syndrome is caused by a third (complete or partial) copy of chromosome 21. This results in the duplication of genes, including some involved in a signalling pathway mediated by NFAT. It may be that the NFAT signalling pathway enhances inflammation and proliferation in arteries from Down’s syndrome patients, and leads to pulmonary hypertension. Previous work has shown that the enzyme NFAT is involved in the activation of the Wnt pathway. NFAT regulation genes include RCAN1 and Down’s syndrome CR1. By studying cells (macrophages) in blood samples from children with and without Down’s syndrome the signalling pathways can be analysed and any differences recorded.
This area has never been studied, and an understanding of any differences in cell signalling may explain the enhanced rates of pulmonary hypertension in people with Down’s syndrome.
REC name
North of Scotland Research Ethics Committee 2
REC reference
13/NS/0079
Date of REC Opinion
15 Aug 2013
REC opinion
Further Information Favourable Opinion