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).

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...


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...

Miratul Muqit

(Wellcome Trust Clinician Scientist)

Miratul Muqit

Miratul Muqit graduated MB, ChB (Hons) from the University of Edinburgh (1991-97). He is a former Kennedy Scholar of Harvard University (2000-01) where he undertook postdoctoral studies in Mel Feany’s laboratory making Drosophila models of human neurodegenerative disease. He undertook his PhD as a MRC Clinical Training Fellow at University College London (2001-2004) jointly supervised by David Latchman and Nicholas Wood, where he studied two genes associated with early-onset Parkinson’s disease, parkin (a ubiquitin ligase) and PTEN-induced kinase 1 (PINK1).

In parallel he has trained as a clinical neurologist. He completed general medical training at the Hammersmith Hospital and hospitals affiliated to Imperial College. He then trained as a neurologist at several London hospitals including King’s College Hospital and the National Hospital for Neurology and Neurosurgery at Queen Square. He trained in movement disorders with Andrew Lees and Khailash Bhatia at the National Hospital.

In 2008 he was awarded a Wellcome Trust Intermediate Clinical Fellowship sponsored by Dario Alessi at the MRC Protein Phosphorylation Unit to investigate the molecular signaling pathways of the Parkinson’s disease associated kinases, PINK1 and LRRK2.

Contact details

Lab website

Link to publications

Page last modified on 20 mar 13 17:12