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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...
Molecular Biology and Biochemistry Group
The research focus currently resides on unravelling the function and disease related dysregulation of the mitochondrial Parkinson’s Disease (PD) related protein kinase PINK1. Mutations in PINK1 are associated with early onset PD (EOPD) and are the second most common cause of recessive disease. In the past few years our understanding of PINK1 function has grown significantly and PINK1 has been linked to numerous cellular functions such as neuroprotection, mitochondrial fission-fusion and mitochondrial clearance through mitophagy, to name a few. Recently, though cellular and proteomic approaches Dr Deas has identified a number of novel PINK1 protein interactors and the current focus of her work is to explore the significance of these interactions with respect to disease.
A series of molecular biology and biochemical techniques are employed within the laboratory including: western blot, SDS-PAGE, Phos-tag gel analysis of phosphorylated proteins, patient DNA sequencing, cloning, protein interaction studies and kinase assays.
At present a variety of cell and animal models are utilised including human fetal ventral mesencephalon stem cells (ReNCells - which can be differentiated into dopaminergic neurons), primary patient fibroblasts and primary mouse neuronal cultures.
Page last modified on 21 jan 11 10:08