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Pedigrees and I-FP-CIT SPECT scan images of the four families with GCH1 mutations involved in this study.

GCH1 gene and Parkinson's risk

A study published in Brain, led by researchers at UCL Institute of Neurology, has shown that genetic mutations which cause a decrease in dopamine production in the brain and lead to a form of childhood-onset Dystonia, also play a role in the development of Parkinson’s disease.
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Leonard Wolfson Experimental Neurology Centre (LWENC)

The new Leonard Wolfson Experimental Neurology Centre (LWENC) has opened for clinical studies and trials

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Audioslide presentation on Claudia Manzoni's paper examining how fibroblasts with LRRK2 mutations react to starvation conditions and the possible deficits that they have in autophagy.

LRRK2 and autophagy in fibroblasts

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).
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Drosophila fly model - University of Sheffield

Genetic mutations linked to Parkinson's disease

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...

Autophagy

LRRK2 and autophagy

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...

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  • 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.
     
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Page last modified on 04 aug 14 12:56