Neuroscience research in The Lancet

3 February 2011

UCL Institute of Neurology

Two high profile research papers from UCL Institute of Neurology scientists have been published this week.

Professor Alan Thompson, Director of the UCL Institute of Neurology and Interim Head of UCL Neuroscience domain, said: "These two important studies, both published in The Lancet this week, are a testament to the breadth and significance of neuroscience research at UCL. They demonstrate the potential for basic neuroscience to have a major impact on both the diagnosis and understanding of neurological disorders which can, in turn, result in improved patient care.

"One study significantly furthers our understanding of the genetic basis of Parkinson's Disease while the other outlines a prototype blood test for variant Creutzfeldt-Jakob disease (vCJD), which could have a critical role in the diagnosis and screening of this disease. Congratulations to all those involved in the work that has led to the publication of these important research papers."

New Parkinson's genes identified

Parkinson’s Disease (PD) is a common neurodegenerative disease, affecting >2% of people over the age of 75 years. Most individuals develop the disorder in their 60s and 70s. In the last decade it has become clear that there is a substantial genetic component to the disorder.

Rare families have been identified across the world in whom PD is a result of a mutation in a single gene that leads to developing the disease. These families often have multiple affected individuals with PD. Collectively, such families account for only about 5% of people diagnosed with Parkinson’s, but can tell us a great deal about how PD develops.

Most individuals with PD do not have a genetic mutation of this type, although it is believed they have an inherited susceptibility to the disease. Susceptibility (or risk) of developing PD is also thought to be genetically determined, but is likely to be due to a large number of changes across multiple genes each exerting a weak effect. This risk then possibly interacts with environmental factors to determine the overall probability of developing Parkinson’s disease.

There have been several studies, called genome-wide association studies, published in the last few years, designed to look at genetic differences between individuals with PD and those without. Genome-wide association studies have already identified changes in 6 genes that increase an individual’s risk of developing PD.

In this recent paper, published in the Lancet , Parkinson’s disease researchers from 6 different countries, led by Professor Nick Wood (UCL Institute of Neurology), pooled 5 genome-wide association studies in which more than 5,000 individuals with PD were studied and compared with 12,000 healthy individuals. The results were then analyzed collectively, confirming the role of the 6 genes previously identified, as well as revealing a further 5 new genes likely to be important in the development of Parkinson’s Disease.

The authors of this paper now intend to study these genes in greater detail to determine how changes in these genes influence the development of PD. 

World’s first blood test for vCJD

The world’s first accurate blood test for variant Creutzfeldt-Jakob disease (vCJD) has been developed by UCL scientists at the MRC Prion unit. The prototype, which is 100,000 times more sensitive than any previous attempt, could transform the diagnosis and screening of the brain disease.

Variant CJD, the human form of BSE (or mad cow disease) first emerged in 1995. The disease, which affects the brain, is believed to have passed from cattle to humans through infected food. It causes personality change, loss of body function, and eventually death.

The research team from the MRC Prion Unit, based at UCL, worked with the National Prion Clinic at the National Hospital for Neurology and Neurosurgery (NHNN) to test 190 blood samples, including 21 from individuals known to have vCJD. The blood test was able to detect blood spiked with a dilution of vCJD to within one part per ten billion - 100,000 times more sensitive than any other method developed so far.

Professor John Collinge, Director of the MRC Prion Unit, said: “One of the reasons that vCJD is such a dreaded disease and has caused such disruption and expense to health services is the lack of knowledge of who is and who is not a carrier of this infection. The next step will be to test anonymously several thousand blood donors from a country unaffected by BSE in order to gain a better idea of how the test fares in practice. Longer term studies will also be needed to assess what proportion of individuals who test positive for prion infection will then go on to develop the disease later in life.

“The MRC Prion Unit’s research with the NHS National Prion Clinic to improve early diagnosis is an essential part of the wider MRC strategy to develop better treatments for patients. For this to develop, it will be crucial for clinicians to be able to offer treatment before extensive irreversible damage to the brain has occurred. At the moment, a firm diagnosis of vCJD can usually be made only once serious symptoms of the disease have developed which indicate extensive damage to the brain.”


UCL Context

The UCL Institute of Neurology, Queen Square, was established in 1950 and merged with UCL in 1997. The Institute is closely associated in its work with the National Hospital for Neurology & Neurosurgery, University College London Hospitals’ NHS Foundation Trust, and in combination they form a national and international centre at Queen Square for teaching, training and research in neurology and allied clinical and basic neurosciences.

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