UK Parkinson's Disease Consortium - UKPDC
- Principal Investigators
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- Neurological Biochemistry
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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...
Our group’s main goal is to identify genetic variability that either causes or contributes to the onset of neurodegenerative disease.
Our work relies heavily on building a large bank of tissue and DNA samples with which to work. In order to facilitate this process, we have developed a number of strong collaborative ties with the clinical teams at the National Hospital for Neurology and Neurosurgery who are instrumental in identifying potential donors. It is because of this spirit of co-operation that we have accrued one of the world’s largest neurodegenerative sample databases, that includes not only DNA, but in many cases, fibroblasts or brain tissue.
In order to elucidate the genetic
architecture of these diseases, we are currently using state-of-the-art
approaches, which range from genome-wide genotyping, through exome to, in select
cases, whole genome sequencing. These
novel technologies have opened the door to a whole new outlook on genomic
variability and how it impacts on the onset and course of a disease.
We are currently using these technologies to model Parkinson’s disease as a complex disorder with a two-pronged approach: on one hand we are studying families using Sanger sequencing followed by whole-genome genotyping, linkage analysis and ultimately exome sequencing, and on the other hand we are using our extensive sample biobank to perform large scale association studies with genotype and, in the near future, sequence data.
It is expected that over the next 2-5 years
technology will improve to a point where whole genome sequencing becomes
feasible on large cohorts of samples. Our group is in an ideal position to make
use of these innovations with great success.
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.
Page last modified on 31 jan 11 17:51