A study of movement disorders in adults with 22q11 deletion syndrome
Research type
Research Study
Full title
A study of movement disorders in adults with 22q11 deletion (Di George syndrome)
IRAS ID
181438
Contact name
Alisdair McNeill
Contact email
Sponsor organisation
Sheffield Childrens Hospital
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Parkinson' disease is an incurable condition which causes tremor and slow movements. It is very common, affecting at least 1% of people over the age of 65. The cause of Parkinson's disease is not fully understood. Recently it has been found that people with a condition called Di George syndrome have an increased chance of developing Parkinson's disease. People with Di George syndrome may also have an increased chance of developing other abnormalities of movements such as myoclonus (sudden jerky movement). Di George syndrome is uncommon (1/4000 people) and due to a missing part of chromosome 22. This missing piece of chromosome 22 contains several important instructions to make mitochondria (the batteries and energy supply of brain cells). It is known that reduced mitochondrial function plays a role in causing Parkinson's disease and abnormalities of movement. We think that reduced mitochondrial function might predispose people with Di George syndrome to developing Parkinson's disease or abnormal movements. In this project we will recruit a large group of patients with Di George syndrome and study them to see how frequently Di George syndrome causes Parkinson's disease. We will then take blood samples from some of them and grow cells from these samples. We will analyse these cells to see if the mitochondria are working properly. This will help us understand the cause of Parkinson's disease and perhaps suggest new treatments.
REC name
South West - Central Bristol Research Ethics Committee
REC reference
15/SW/0272
Date of REC Opinion
8 Sep 2015
REC opinion
Favourable Opinion