Research

 

Huntington's disease (HD) is a fatal neurodegenerative disorder inherited in an autosomal dominant manner. This disease is caused by an expansion of a polyglutamine tract in the protein huntington and is characterised by atrophy in the striatum and cortex of the brain. The most common symptomatic manifestations of the disease are chorea (involuntary jerking of muscles), cognitive deficits and psychiatric disturbances.  Although the initiating trigger in HD is known, the critical molecular mechanisms underlying this devastating illness remain unresolved. Our work focuses on elucidating these molecular mechanisms with the hope of aiding in the development of therapeutic strategies for HD.

A good deal of our research is focused on the role of the kynurenine pathway in HD pathology, and we have a particular interest in the enzyme kynurenine 3-monoxygenase (KMO) as a candidate therapeutic target for this disease.

 

Parkinson's disease (PD) is the second most common neurodegenerative disorder in the Western world after

Parkinsons Disease
Parkinson's disease related protein DJ-1 in human cells

Alzheimer’s disease and is characterized by dopaminergic cell loss in the substantia nigra and the presence of cytoplasmic proteinaceous inclusions called Lewy bodies. Depletion of dopamine in the striatum causes deregulation of the motor circuits that project throughout the basal ganglia, resulting in the clinical manifestations of PD (resting tremor, slowness of movement, muscular rigidity, and postural instability). The vast majority of PD cases are thought to be idiopathic but 5-10% are due to a genetic component, showing both dominant and recessive modes of inheritance. Linkage data has identified ten loci, named PARK, and mutations in several genes have already been mapped.

Our work, in collaboration with Dr Tiago Outeiro (IMM, Lisbon), is focused on DJ-1 (PARK7). We are using mammalian cell, Drosophila and yeast models of HD and PD to characterise conserved mechanisms and genes involved in pathology of these diseases, with the ultimate goal of identifying novel therapeutic targets.

 


Research Links

Search PubMed at the US National Library of Medicine for this author: Dr F. Giorgini
Search Leicester Research ArchiveDr F. Giorgini
Search Google ScholarDr F. Giorgini

 

For further details, see our Laboratory Webpages : Giorgini Group

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Department of Genetics
University of Leicester

Adrian Building
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Leicester
LE1 7RH
United Kingdom

Tel: +44 (0)116 252 3374
E Mail: genetics@le.ac.uk

Head of Department
Professor Alison Goodall

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