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...
- UK Parkinson's Disease Consortium (UKPDC) is a group of
world-leading genetic, biochemical, clinical and other scientific researchers
who possess complementary expertise, technology and other resources to identify
and tackle the causes of Parkinson’s disease (PD).
- Parkinson's disease is a common, disabling and currently incurable neurodegenerative condition that affects over 2% of people over the age of 75.
- There has been tremendous progress in recent years in understanding better the possible causes of Parkinson's disease.
- This has been principally driven by genetic discoveries of the genes/molecules that determine a higher risk factor for developing Parkinson's disease.
- We now have the opportunity to harness these discoveries into a more complete understanding of neurodegeneration (cell death) and dysfunction in this disease and to fully characterise the common clinical traits so that Parkinson's disease treatment can be realised.
We have three main goals:
- To undertake comprehensive genetic analysis of a large number of well characterised Parkinson's disease patients to identify rare variants and novel genes that cause and predispose to the disease.
- To understand the biochemistry of existing and novel causative Parkinson's disease gene products, and their pathways, to describe the regulation and function of these proteins.
- To collate the clinical traits of a large group of at-risk patients and to define the early Parkinson's disease symptoms, so that disease modifying treatments could be administered as early as possible.
- This research should yield crucial new knowledge of the pathways leading to neurodegeneration and shed insight into the causation of Parkinson's disease.
Page last modified on 13 feb 14 01:04