UK Parkinson's Disease Consortium - UKPDC
- Principal Investigators
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- Cell Physiology
- Clinical Neuroscience
- Clinical Studies
- Drosophila Genetics
- Molecular Biology and Biochemistry
- Molecular Neuropathology
- Neurological Biochemistry
- Neurological Signalling
- Protein Phosphorylation
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In this paper Claudia Manzoni studies how fibroblast
cells from people with Parkinson’s disease caused by mutations in LRRK2
react to starvation. Although the changes are quite subtle, there are
differences between the way that fibroblasts that contain mutant LRRK2
respond to being starved – suggesting that there may be changes in the
way that these cells regulate a key process called autophagy (a term
which comes from the greek meaning to eat yourself, and is one of the
ways that cells get rid of waste and recycle proteins and organellles).
Research led by consortium researchers Dr Helene Plun-Favreau (UCL Institute of Neurology) and Dr Alex Whitworth (University of Sheffield), and collaborator Dr Heike Laman (University of Cambridge), has discovered how genetic mutations linked to Parkinson’s disease might play a key role in the death of brain cells, potentially paving the way for the development of more effective drug treatments. In the new study, published in Nature Neuroscience, the team of cross-institutional researchers showed how defects in the Parkinson’s gene Fbxo7 cause problems with mitophagy. More...
Mutations in LRRK2 are the most common genetic cause of Parkinson’s disease. Here, Claudia Manzoni talks about her research (funded by the Rosetrees Trust and the Michael J. Fox Foundation) into what LRRK2 might be doing within the cell: Parkinson’s disease is a brain illness that afflicts 1 in 500 people in the UK. High profile patients, such as the actor Michael J Fox, the boxer Muhammad Ali and the late Pope John Paul II, have raised public awareness of Parkinson’s and its devastating impact. More...
Dr Laura Osellame tells us about her recent paper in Cell Metabolism about Mitochondrial dysfunction linked to loss of an enzyme called GBA: Gaucher Disease (GD) is a rare inherited disease, belonging to the family of lysosomal storage disorders. Mutations in the gene glucocerebrosidase (GBA) are responsible for the disease and can increase susceptibility to Parkinson’s disease (PD). Genetic studies undertaken at UCL and other hospitals around the world suggest that mutations in GBA are the most common genetic risk factor currently known for PD. More...
First author Adamantios Mamais tells us about his recent publication in Neurobiology of Disease: At the Queen Square Brain Bank (part of the UCL Institute of Neurology) we hold a large collection of post-mortem human brain tissue from patients with neurodegenerative diseases including Parkinson’s disease (PD); a debilitating neurological disorder that affects the central nervous system. In the United States alone about 50,000 new cases are reported every year. The main symptoms include tremor, slow movement, rigid limbs and a shuffling gait while these worsen with time. More...
Clinical Studies Group
Parkinsonism is a descriptive term that includes Parkinson’s disease and other disorders that have similar symptoms. The commonest features of these conditions include abnormal stiffness, slowness of movement or shakiness. These outward changes are caused by the progressive loss of function and eventual death of certain key nerve cells within the brain.
One aim of our study is to understand as much as possible about what causes these nerve cells to die prematurely in people with parkinsonism. It is thought likely that both agents in the environment and genetic factors play a role in this process, but to varying degrees in individual cases. Several changes in the genes that influence the risk of developing parkinsonism have already been discovered during previous studies; it is likely, however, that there are many more which remain to be found. By looking at the genetic material (also called DNA) of people with parkinsonism and comparing it with that of people who do not have parkinsonism, we hope to identify new, unknown changes in the genes that increase the risk of developing this problem. From participants who carry such changes in their genes, we will seek to collect urine, blood and skin cells to study how they affect the normal workings of living cells in order to cause parkinsonism.
At present, we do not have a reliable way of identifying individuals who are at the very earliest stage in the disease. This would be important because if we develop medicines that slow down or maybe halt the progression of Parkinson’s disease, it is at this stage of the disease that they will be most beneficial. Another aim of this project is thus to study individuals, who we know are at higher risk of parkinsonism because they carry a change in their genes which is known to predispose to the condition, closely over a period of time in order to capture the very earliest stage of the condition.
The overall goal is to improve medical knowledge and understanding of Parkinson’s disease. It is hoped that scientific research into this disorder will ultimately help us to design a medicine that can slow down or stop the progress of the disease.
We would be interested to hear from any individuals with Parkinson’s disease who have a family history of the disorder as we are currently recruiting for research studies. Please contact Dr Una-Marie Sheerin here.
An increased prevalence of Parkinson's disease amongst sufferers and carriers of Gaucher disease has been confirmed by recent studies. The current project also aims to understand why Gaucher disease patients and
carriers have an increased chance of Parkinson's disease. To do this
we will assess a large group of people with Gaucher disease and carriers
for signs of early Parkinson's disease. If you would like to take part please contact Dr Alisdair McNeill here.
Page last modified on 31 jan 11 17:52