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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...

GBA neurons

GBA and mitochondria

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...

Image of alpha-synuclein

Alpha-synuclein in LRRK2 brains

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...

Video: Brain Disease Research - Keeping You You

11 April 2013

Link to film: Brain Disease Research - Keeping You You


Have you ever wondered how scientists research the brain? Have you wondered who digs through that beautiful mass of grey matter between our ears to understand how it works and why it stops working? Meet the Neurodegenerative Diseases Initiative. Funded by the Wellcome Trust and MRC, this team of scientists from around the globe investigates Alzheimer's, Parkinson's and Motor Neuron Diseases. The team is on the hunt for understanding and treatments for brain diseases.

As we age, brain diseases become more and more common. More than 1 in 6 over 80 year olds have some form of dementia, such as Alzheimer’s disease, and around 4% have Parkinson’s Disease. Dementia alone costs the EU approximately £108 billion a year. Because we’re now living longer than ever, the number of people with brain diseases looks set to increase, so there is a greater need than ever to understand how they affect the brain.

The Neurodegenerative Diseases Initiative has created a short film taking you on a whirlwind tour of brain research. From those affected by brain disease, to those spared like Granny Marsh, 90 years old and spritely. Learn about the questions the Initiative is asking about the brain, and see how they look at individual brain cells, proteins and genes.


There’s a big challenge ahead but the team is working hard to decode the enigmas of brain disease now. Be inspired by their film and share it with loved ones, and if you want to learn even more about the exciting breakthroughs the team is making, as they make them, check out their blog www.degeneratingneurons.com

Click to share the film via Facebook or Twitter.

Page last modified on 11 apr 13 17:16