Research Theme Beyond the Neuron

Professor Patrick Chinnery FRCP FMedSci

University Position
Head of Department


I am interested in the genetic basis of neurological disorders, and particularly mitochondrial diseases. Mitochondria are the main source of energy within neurons and glia. Mutations in genes responsible for mitochondrial biogenesis are a major cause of human disease, affecting multiple organs including the brain. My laboratory research programme is based in the MRC Mitochondrial Biology Unit, and studies the mechanisms of mitochondrial disease in patients and model systems. Our aim is to understand why specific cell types are so vulnerable in mitochondrial diseases. I have an active genomics programme identifying new disease genes and mechanisms in neurological disorders. I also have an active clinical research programme developing new treatments for mitochondrial disorders.

Key Publications

Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson’s disease.

Journal: Ann Neurol
E-pub date: 31 Aug 2007
Authors: A Goris, CH Williams-Gray, GR Clark, T Foltynie, SJG Lewis, J Brown, M Ban, MG Spillantini, A Compston, DJ Burn, PF Chinnery, RA Barker, SJ Sawcer


High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease.

Journal: Neurol Genet
E-pub date: 1 Feb 2023
Authors: AG Murley, Y Nie, Z Golder, MJ Keogh, C Smith, JW Ironside, PF Chinnery

Heteroplasmic mitochondrial DNA mutations in frontotemporal lobar degeneration.

Journal: Acta Neuropathol
E-pub date: 1 Jun 2022
Authors: Y Nie, A Murley, Z Golder, JB Rowe, K Allinson, PF Chinnery

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.

Journal: Nucleic Acids Res
E-pub date: 27 Sep 2021
Authors: TE Ratnaike, D Greene, W Wei, A Sanchis-Juan, KR Schon, J van den Ameele, L Raymond, R Horvath, E Turro, PF Chinnery

Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases.

Journal: Nat Med
E-pub date: 1 Sep 2021
Authors: N Cai, A Gomez-Duran, E Yonova-Doing, K Kundu, AI Burgess, ZJ Golder, C Calabrese, MJ Bonder, M Camacho, RA Lawson, L Li, CH Williams-Gray, ICICLE-PD Study Group, E Di Angelantonio, DJ Roberts, NA Watkins, WH Ouwehand, AS Butterworth, ID Stewart, M Pietzner, NJ Wareham, C Langenberg, J Danesh, K Walter, PM Rothwell, JMM Howson, O Stegle, PF Chinnery, N Soranzo

Epigenetic regulation in the pathophysiology of Lewy body dementia.

Journal: Prog Neurobiol
E-pub date: 1 Sep 2020
Authors: L Chouliaras, GS Kumar, AJ Thomas, K Lunnon, PF Chinnery, JT O'Brien

Mitochondrial Diseases: A Diagnostic Revolution.

Journal: Trends Genet
E-pub date: 1 Sep 2020
Authors: KR Schon, T Ratnaike, J van den Ameele, R Horvath, PF Chinnery

Chronic pain is common in mitochondrial disease.

Journal: Neuromuscul Disord
E-pub date: 1 May 2020
Authors: J van den Ameele, J Fuge, RDS Pitceathly, S Berry, Z McIntyre, MG Hanna, M Lee, PF Chinnery

Mitochondrial heteroplasmy beyond the oocyte bottleneck.

Journal: Semin Cell Dev Biol
E-pub date: 1 Jan 2020
Authors: J van den Ameele, AYZ Li, H Ma, PF Chinnery

High prevalence of focal and multi-focal somatic genetic variants in the human brain.

Journal: Nat Commun
E-pub date: 15 Oct 2018
Authors: MJ Keogh, W Wei, J Aryaman, L Walker, J van den Ameele, J Coxhead, I Wilson, M Bashton, J Beck, J West, R Chen, C Haudenschild, G Bartha, S Luo, CM Morris, NS Jones, J Attems, PF Chinnery

Stability of mild cognitive impairment in newly diagnosed Parkinson’s disease.

Journal: J Neurol Neurosurg Psychiatry
E-pub date: 31 Aug 2017
Authors: RA Lawson, AJ Yarnall, GW Duncan, DP Breen, TK Khoo, CH Williams-Gray, RA Barker, DJ Burn, ICICLE-PD study group

Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing.

Journal: Genome Biol
E-pub date: 30 Jan 2017
Authors: IE Jansen, H Ye, S Heetveld, MC Lechler, H Michels, RI Seinstra, SJ Lubbe, V Drouet, S Lesage, E Majounie, JR Gibbs, MA Nalls, M Ryten, JA Botia, J Vandrovcova, J Simon-Sanchez, M Castillo-Lizardo, P Rizzu, C Blauwendraat, AK Chouhan, Y Li, P Yogi, N Amin, CM van Duijn, International Parkinson’s Disease Genetics Consortium (IPGDC), HR Morris, A Brice, AB Singleton, DC David, EA Nollen, S Jain, JM Shulman, P Heutink

Exome sequencing in dementia with Lewy bodies.

Journal: Transl Psychiatry
E-pub date: 2 Feb 2016
Authors: MJ Keogh, M Kurzawa-Akanbi, H Griffin, K Douroudis, KL Ayers, RI Hussein, G Hudson, A Pyle, HJ Cordell, J Attems, IG McKeith, JT O'Brien, DJ Burn, CM Morris, AJ Thomas, PF Chinnery

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases.

Journal: Neurobiol Aging
E-pub date: 1 Mar 2015
Authors: MA Nalls, J Bras, DG Hernandez, MF Keller, E Majounie, AE Renton, M Saad, I Jansen, R Guerreiro, S Lubbe, V Plagnol, JR Gibbs, C Schulte, N Pankratz, M Sutherland, L Bertram, CM Lill, AL DeStefano, T Faroud, N Eriksson, JY Tung, C Edsall, N Nichols, J Brooks, S Arepalli, H Pliner, C Letson, P Heutink, M Martinez, T Gasser, BJ Traynor, N Wood, J Hardy, AB Singleton, International Parkinson's Disease Genomics Consortium (IPDGC), Parkinson's Disease meta-analysis consortium

Genetic comorbidities in Parkinson’s disease.

Journal: Hum Mol Genet
E-pub date: 1 Feb 2014
Authors: MA Nalls, M Saad, AJ Noyce, MF Keller, A Schrag, JP Bestwick, BJ Traynor, JR Gibbs, DG Hernandez, MR Cookson, HR Morris, N Williams, T Gasser, P Heutink, N Wood, J Hardy, M Martinez, AB Singleton, International Parkinson's Disease Genomics Consortium (IPDGC), Wellcome Trust Case Control Consortium 2 (WTCCC2), North American Brain Expression Consortium (NABEC), United Kingdom Brain Expression Consortium (UKBEC)

Serum iron levels and the risk of Parkinson disease: a Mendelian randomization study.

Journal: PLoS Med
E-pub date: 1 Aug 2013
Authors: I Pichler, F Del Greco M, M Gögele, CM Lill, L Bertram, CB Do, N Eriksson, T Foroud, RH Myers, PD GWAS Consortium, M Nalls, MF Keller, International Parkinson's Disease Genomics Consortium, Wellcome Trust Case Control Consortium 2, B Benyamin, JB Whitfield, Genetics of Iron Status Consortium, PP Pramstaller, AA Hicks, JR Thompson, C Minelli

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson’s disease with a sexual dimorphism.

Journal: J Neurol Neurosurg Psychiatry
E-pub date: 1 Jun 2013
Authors: S Klebe, J-L Golmard, MA Nalls, M Saad, AB Singleton, JM Bras, J Hardy, J Simon-Sanchez, P Heutink, G Kuhlenbäumer, R Charfi, C Klein, J Hagenah, T Gasser, I Wurster, S Lesage, D Lorenz, G Deuschl, F Durif, P Pollak, P Damier, F Tison, A Durr, P Amouyel, J-C Lambert, C Tzourio, C Maubaret, F Charbonnier-Beaupel, K Tahiri, M Vidailhet, M Martinez, A Brice, J-C Corvol, French Parkinson's Disease Genetics Study Group, International Parkinson's Disease Genomics Consortium (IPDGC)

Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease.

Journal: Neurology
E-pub date: 28 May 2013
Authors: G Hudson, M Nalls, JR Evans, DP Breen, S Winder-Rhodes, KE Morrison, HR Morris, CH Williams-Gray, RA Barker, AB Singleton, J Hardy, NE Wood, DJ Burn, PF Chinnery

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson’s disease.

Journal: Hum Mol Genet
E-pub date: 1 Mar 2013
Authors: P Holmans, V Moskvina, L Jones, M Sharma, International Parkinson's Disease Genomics Consortium, A Vedernikov, F Buchel, M Saad, JM Bras, F Bettella, N Nicolaou, J Simón-Sánchez, F Mittag, JR Gibbs, C Schulte, A Durr, R Guerreiro, D Hernandez, A Brice, H Stefánsson, K Majamaa, T Gasser, P Heutink, NW Wood, M Martinez, AB Singleton, MA Nalls, J Hardy, HR Morris, NM Williams

Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities.

Journal: Hum Mutat
E-pub date: 1 Dec 2012
Authors: F Mittag, F Büchel, M Saad, A Jahn, C Schulte, Z Bochdanovits, J Simón-Sánchez, MA Nalls, M Keller, DG Hernandez, JR Gibbs, S Lesage, A Brice, P Heutink, M Martinez, NW Wood, J Hardy, AB Singleton, A Zell, T Gasser, M Sharma, International Parkinson’s Disease Genomics Consortium

Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson’s disease.

Journal: Hum Mol Genet
E-pub date: 15 Nov 2012
Authors: MF Keller, M Saad, J Bras, F Bettella, N Nicolaou, J Simón-Sánchez, F Mittag, F Büchel, M Sharma, JR Gibbs, C Schulte, V Moskvina, A Durr, P Holmans, LL Kilarski, R Guerreiro, DG Hernandez, A Brice, P Ylikotila, H Stefánsson, K Majamaa, HR Morris, N Williams, T Gasser, P Heutink, NW Wood, J Hardy, M Martinez, AB Singleton, MA Nalls, International Parkinson's Disease Genomics Consortium (IPDGC), Wellcome Trust Case Control Consortium 2 (WTCCC2)

Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson’s disease.

Journal: Mov Disord
E-pub date: 1 Oct 2012
Authors: LL Kilarski, JP Pearson, V Newsway, E Majounie, MDW Knipe, A Misbahuddin, PF Chinnery, DJ Burn, CE Clarke, M-H Marion, AJ Lewthwaite, DJ Nicholl, NW Wood, KE Morrison, CH Williams-Gray, JR Evans, SJ Sawcer, RA Barker, MM Wickremaratchi, Y Ben-Shlomo, NM Williams, HR Morris

Genetic and pathological links between Parkinson’s disease and the lysosomal disorder Sanfilippo syndrome.

Journal: Mov Disord
E-pub date: 1 Feb 2012
Authors: SE Winder-Rhodes, P Garcia-Reitböck, M Ban, JR Evans, TS Jacques, A Kemppinen, T Foltynie, CH Williams-Gray, PF Chinnery, G Hudson, DJ Burn, LM Allcock, SJ Sawcer, RA Barker, MG Spillantini

A two-stage meta-analysis identifies several new loci for Parkinson’s disease.

Journal: PLoS Genet
E-pub date: 1 Jun 2011
Authors: International Parkinson's Disease Genomics Consortium (IPDGC), Wellcome Trust Case Control Consortium 2 (WTCCC2)

Imputation of sequence variants for identification of genetic risks for Parkinson’s disease: a meta-analysis of genome-wide association studies.

Journal: Lancet
E-pub date: 19 Feb 2011
Authors: International Parkinson Disease Genomics Consortium, MA Nalls, V Plagnol, DG Hernandez, M Sharma, U-M Sheerin, M Saad, J Simón-Sánchez, C Schulte, S Lesage, S Sveinbjörnsdóttir, K Stefánsson, M Martinez, J Hardy, P Heutink, A Brice, T Gasser, AB Singleton, NW Wood

The mitochondrial DNA A3243A>G mutation must be an infrequent cause of Asperger syndrome.

Journal: J Pediatr
E-pub date: 31 Aug 2006
Authors: L Kent, C Lambert, A Pyle, H Elliott, S Wheelwright, S Baron-Cohen, PF Chinnery