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
- Cree L; Samuels D; De Sousa Lopes S; Rajasimha H; Wonnapinij P; Mann J; Dahl H; Chinnery P. A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes. Nature Genetics 2008, 40(2), 249-254.
- Baudouin S; Chinnery P; Saunders D; Tiangyou W; Elson J; Poynter J; Pyle A; Keers S; Turnbull D; Howell N. Mitochondrial DNA and survival after sepsis: A prospective study. Lancet 2005, 366(9503), 2118-2121.
- Hudson G; Carelli V; Spruijt L; Gerards M; Mowbray C; Achilli A; Pyle A; Elson J; Howell N; La Morgia C; Valentino ML; Huoponen K; Savontaus ML; Nikoskelainen E; Sadun AA; Salomao SR; Belfort Jr R; Griffiths P; Yu Wai Man P; de Coo RFM; Horvath R; Zeviani M; Smeets HJT; Torroni A; Chinnery PF. Clinical expression of Leber heriditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. American Journal of Human Genetics 2007, 81(2), 228-233.
- Longley MJ; Chinnery PF; Clark S; Man CYW; Hudson G; Durham SE; Taylor RW; Nightingale S; Turnbull DM; Copeland WC. Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia. American Journal of Human Genetics 2006, 78(6), 1026-1034.
- Chinnery PF; DiMauro S; Shanske S; Schon EA; Zeviani M; Mariotti C; Carrara F; Lombes A; Laforet P; Ogier H; Jaksch M; Lochmuller H; Horvath R; Deschauer M; Thorburn DR; Bindoff LA; Poulton J; Taylor RW; Matthews JNS; Turnbull DM. Risk of developing a mitochondrial DNA deletion disorder. The Lancet 2004, 364(9434), 592-596.
- 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.
