Prof. Patrick Chinnery
Wellcome Senior Fellow in Clinical Science, Professor of Neurogenetics and Honorary Consultant
- Email: P.F.Chinnery@ncl.ac.uk
- Telephone: +44(0)191 222 5101
- Fax: +44 (0) 191 222 8553
- Address: Mitochondrial Research Group
The Medical School
University of Newcastle upon Tyne
Newcastle upon Tyne
NE2 4HH
Research Interests
My principal interest is in the clinical and molecular basis of neurological disease. I currently run research projects studying the molecular aetiology of monogenic disorders (including inherited ataxia and spastic paraparesis), and multifactorial disorders (including Parkinson’s disease). Human mitochondrial disorders form a major focus of the work in my laboratory, and particularly the interaction between nuclear and mitochondrial genes (focussing on Leber’s hereditary optic neuropathy) and the inheritance of mitochondrial DNA mutations. My work is supported by the Wellcome Trust and Ataxia UK.
Selected Publications
- M. J. Longley;S. Clark;C. Yu Wai Man;G. Hudson;S. E. Durham;R. W. Taylor;S. Nightingale;D. M. Turnbull;W. C. Copeland;P. F. Chinnery. Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia. American Journal of Human Genetics 2006, 78(6), 1026-1034.
- Hudson G; Keers SM; Yu Wai Man P; Griffiths P; Huoponen K; Savontaus M-L; Nikoskelainen E; Zeviani M; Carrara F; Horvath R; Karcagi V; Spruijt L; de Coo IMF; Smeets HJM; Chinnery PF. Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. American Journal of Human Genetics 2005, 77(6), 1086-1091.
- P. F. Chinnery;M. Zeviani. 155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands. Neuromuscul Disord 2008, 18(3), 259-67.
- A. Nemes;I. F. De Coo;L. Spruijt;H. J. Smeets;P. F. Chinnery;O. I. Soliman;M. L. Geleijnse;F. J. Ten Cate. Is there alteration in aortic stiffness in Leber hereditary optic neuropathy?. Eur J Ophthalmol 2008, 18(2), 309-12.
- T. Harrower;J. D. Stewart;G. Hudson;H. Houlden;G. Warner;D. G. O'Donovan;L. J. Findlay;R. W. Taylor;R. De Silva;P. F. Chinnery. POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. Arch Neurol 2008, 65(1), 133-6.
- A. M. Schaefer;R. McFarland;E. L. Blakely;L. He;R. G. Whittaker;R. W. Taylor;P. F. Chinnery;D. M. Turnbull. Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008, 63(1), 35-9.
