Award details

The molecular basis of Refsum's Disease

Reference	B14227
Principal Investigator / Supervisor	Professor Christopher Joseph Schofield
Co-Investigators / Co-Supervisors	Dr Matthew Lloyd, Professor Anthony Wierzbicki
Institution	University of Oxford
Department	Oxford Chemistry
Funding type	Research
Value (£)	150,680
Status	Completed
Type	Research Grant
Start date	01/08/2001
End date	31/07/2004
Duration	36 months

Abstract

Phytanic acid is a chlorophyll metabolite which is widely found in the human diet. The presence of a 3- methyl group prevents its degradation via the normal fatty acid beta-oxidation pathway; instead a preliminary pathway is used to excise one carbon atom to give pristanic acid. Phytanoyl-CoA hydroxylase, an iron(II), 2-oxoglutarate-dependent oxygenase, performs an essential step in this pathway. Defects in the PAH step result in Refsum's Disease, whose symptoms include irreversible blindness and deafness. This project will investigate the biochemical effects of clinical mutations in the PAH gene, provide material for enzyme therapy and diagnostic methods, investigate the rescue of certain mutants and initiate biophysical studies.

Summary

unavailable

Committee	Closed Committee - Biomolecular Sciences (BMS)
Research Topics	X – not assigned to a current Research Topic
Research Priority	X – Research Priority information not available
Research Initiative	X - not in an Initiative
Funding Scheme	X – not Funded via a specific Funding Scheme

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