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Dr Mark Cooper

  • Telephone:

    020 74726604

  • Extension:

    #6 292 x34386

  • Fax:

    020 7472 6829

  • Email:

    jmark.cooper@ucl.ac.uk

  • Address:

    Rowland Hill Street,
    London,
    London,
    NW3 2PF

  • Appointments:

    Reader in Neurology, Clinical Neuroscience, Institute of Neurology

Summary

My scientific training was in the field of mitochondrial biochemistry in disease under the supervision of John Morgan-Hughes and John Clark (PhD 1987) at the Institute of Neurology, London. I characterisation the defects in patients with mitochondrial disorders which led to the identification of the first mtDNA deletions (Holt et al 1988, 1989),
 In 1990 I was appointed as Lecturer in the Department of Protein and Molecular Biology at the Royal Free Hospital Medical School, and subsequently in 1994 as Senior Lecturer in the department  of Clinical Neurosciences. In 2010 I was appointed as Reader in Neurodegenerative diseases in the department of Clinical Neurosciences UCL Institute of Neurology.
Mitochondrial function continued to play an important role in my research, studying Leber’s hereditary Optic Neuropathy (Cock et al 1995) and various other mtDNA mutations (Morten et al 1993) and demonstrated mtDNA depletion syndrome was a nuclear gene disorder (Bodnar et al 1993). I generated  an in vivo model to recapitulate the biochemical phenotypes (Cooper et al 1988) and  therapeutic evaluation (Cooper et al 1992).
Mitochondrial function in neurodegenerative diseases continues to play a larg part of my research covering ;PD (Schapira et al 1989), Alzheimer’s disease (Cooper et al 1993), HD (Gu et al  1996), Friedreich's ataxia (Bradley et al 2000), Wilson’s disease (Gu et al 2000), ageing (Cooper et al 1992) ;oxidative stress (Thomas  et al 1993, Rafique et al 2001) and increased iron (Hartley et al 1993).
Friedreich’s Ataxia (FRDA)  research made up a significant part of my work.We confirmed the role of mitochondrial dysfunction, iron accumulation (Bradley et al 2000) and oxidative damage (Bradley et al 2004) in patients with FRDA. Using 31P MRS in collaboration with Raphaele Lodi we were able to detect the  mitochondrial ox phos defects in vivo in  skeletal muscle (Lodi et al 1999)  and cardiac muscle (Lodi et al 2001).  We obtained extensive clinical data on over 70 FRDA patients involving neurological, cardiac (Rajagopalan et al 2010), speech and  limb co-ordination evaluations and evaluation of quality of life and activities of daily living for the cross sectional analysis of the natural history of FRDA (Cooper et al 2008). Long term vitamin E and coenzyme Q10 therapy trials identified an improvement in mitochondrial function (Lodi et al 2001, Hart et al 2005)  and clinical scores (Cooper et al 2008). We have evaluated the ICARS scale  for the evaluation of FRDA (Cano et al 2005, Metz et al 2013) and generated a new validated patient scale – Friedreich’s Ataxia Impact Scale (FAIS) (Cano et al 2009). I have collaborated with Mark Pook in the analysis of a transgenic mouse model (Pook et al 2001, Al-Mahdawi et al 2006).

Research Summary

Parkinson’s Disease (PD):My research focuses on elucidating the cell and molecular mechanisms underlying Parkinson’s disease. Over the past  20 years my research has focussed on the role of mitochondrial dysfunction in PD brains (Schapira et al 1990)  and platelets (Krige et al 1994) and its relationship to other features detected in PD brains including ; mitochondrial DNA defects (Gu et al 1998 ),  nitric oxide (Cleeter et al 1994), oxidative stress (Seaton et al 1997), iron (Hartley et al 1993) and cell death (Hartley et al 1994).  Increasingly with the identification of the familial causes of PD my research has turned to the role of specific mutant genes in PD pathogenesis. Alpha-synuclein has been my main focus with additional interests in ; LRRK2 (Papkovskaia et al 2012), parkin (Gegg et al 2010) and glucocerebrosidase (Gegg et al 2012). While mitochondrial biochemistry is a recurrent theme I also have a broader interest including dopamine metabolism (Tabrizi et al 2000), protein degradation pathways (Alvarez-Erviti et al 2010), alpha-synuclein aggregation and transmission (Alvarez-Erviti et al 2011) and microRNA dysregulation (Alvarez-Erviti et al 2013).

Alpha-synuclein : alpha-synuclein pathology is at the core of PD. I am interested in the normal function of alpha-synuclein. I have a project investigating the regulation of S129 phosphorylation, (Chau et al 2009) and how it may affect its function.I am interested in the cellular handling of alpha-synuclein in particular the pathways of its degradation and how these may be affected in PD. We have identified a deficiency of hsc70 and LAMP2A proteins in PD brains (Alvarez-Erviti et al 2010) which may be responsible for the cellular increase in alpha-synuclein levels in PD.   In addition we are studying what factors influence its; oligomerisation, aggregation and  transmission of synuclein aggregates between cells and the role of exosomes in this process (Alvarez-Erviti et al 2011) . In collaboration with Lydia Alvarez I have a project investigating the role of microRNA dysregulation in PD and how this relates to other pathological findings. We have identified specific microRNAs that can regulate hsc70 and LAMP2A expression which are dramatically elevated in PD brains possibly explaining the observed changes (Alvarez-Erviti et al 2013). We are now investigating the mechanisms underpinning the microRNA dysregulation. I have a collaboration with Lydia Alvarez studying the potential of RVG modified exosome as an in vivo vehicle for the delivery of siRNAs to murine CNS to down-regulate alpha-synuclein.  This is using various cell lines and the human S129D alpha-synuclein transgenic mouse model which shows alpha-synuclein aggregation. This is an exciting new system which has the potential to treat PD by preventing the increased alpha-synuclein aggregation and its transmission between neurons with disease progression.

 

Research Activities

  • A systematic investigation into the pathogenesis and course of Parkinson's syndrome
  • Generation of a cell model of a novel SNCA mutation
  • Models of Neurodegenerative Disease
  • Neurodegenerative diseases, in particular the investigation of the molecular mechanisms of Parkinson's

Recent Publications

Displaying 50 most recent publications. For the full list please visit UCL Discovery

  1. Metz G,Coppard N,Cooper JM,Delatycki MB,Dürr A,Di Prospero NA,Giunti P,Lynch DR,Schulz JB,Rummey C,Meier T (2013) Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database. Brain, 136(Pt 1), 259 - 268. 10.1093/brain/aws309.
  2. Alvarez-Erviti L,Seow Y,Schapira AH,Rodriguez-Oroz MC,Obeso JA,Cooper JM (2013) Influence of microRNA deregulation on chaperone-mediated autophagy and α-synuclein pathology in Parkinson's disease. Cell Death Dis, 4, e545. 10.1038/cddis.2013.73.
  3. Holmans P,Moskvina V,Jones L,Sharma M,International Parkinson's Disease Genomics Consortium ,Vedernikov A,Buchel F,Sadd M,Bras JM,Bettella F,Nicolaou N,Simón-Sánchez J,Mittag F,Gibbs JR,Schulte C,Durr A,Guerreiro R,Hernandez D,Brice A,Stefánsson H,Majamaa K,Gasser T,Heutink P,Wood NW,Martinez M,Singleton AB,Nalls MA,Hardy J,Morris HR,Williams NM (2013) A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Hum Mol Genet, 22(5), 1039 - 1049. 10.1093/hmg/dds492.
  4. Cleeter MW,Chau KY,Gluck C,Mehta A,Hughes DA,Duchen M,Wood NW,Hardy J,Mark Cooper J,Schapira AH (2013) Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage. Neurochem Int, 62(1), 1 - 7. 10.1016/j.neuint.2012.10.010.
  5. Chau KY,Cooper JM,Schapira AH (2013) Pramipexole Reduces Phosphorylation of α-Synuclein at Serine-129. J Mol Neurosci. 10.1007/s12031-013-0030-8.
  6. Cnop M,Igoillo-Esteve M,Rai M,Begu A,Serroukh Y,Depondt C,Musuaya AE,Marhfour I,Ladrière L,Moles Lopez X,Lefkaditis D,Moore F,Brion JP,Cooper JM,Schapira AH,Clark A,Koeppen AH,Marchetti P,Pandolfo M,Eizirik DL,Féry F (2012) Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes. Ann Neurol, 72(6), 971 - 982. 10.1002/ana.23698.
  7. Papkovskaia TD,Chau KY,Inesta-Vaquera F,Papkovsky DB,Healy DG,Nishio K,Staddon J,Duchen MR,Hardy J,Schapira AH,Cooper JM (2012) G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization. Hum Mol Genet, 21(19), 4201 - 4213. 10.1093/hmg/dds244.
  8. Gegg ME,Burke D,Heales SJ,Cooper JM,Hardy J,Wood NW,Schapira AH (2012) Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains Ann.Neurol., 72(3), 455 - 463. 10.1002/ana.23614.
  9. Alvarez-Erviti L,Seow Y,Schapira AH,Gardiner C,Sargent IL,Wood MJ,Cooper JM (2011) Lysosomal dysfunction increases exosome-mediated alpha-synuclein release and transmission. Neurobiol Dis, 42(3), 360 - 367. 10.1016/j.nbd.2011.01.029.
  10. Nalls MA,Plagnol V,Hernandez DG,Sharma M,Sheerin UM,Saad M,Simon-Sanchez J,Schulte C,Lesage S,Sveinbjornsdottir S,Arepalli S,Barker R,Ben-Shlomo Y,Berendse HW,Berg D,Bhatia K,de Bie RMA,Biffi A,Bloem B,Bochdanovits Z,Bonin M,Bras JM,Brockmann K,Brooks J,Burn DJ,Charlesworth G,Chen HL,Chinnery PF,Chong S,Clarke CE,Cookson MR,Cooper JM,Corvol JC,Counsell C,Damier P,Dartigues JF,Deloukas P,Deuschl G,Dexter DT,van Dijk KD,Dillman A,Durif F,Durr A,Edkins S,Evans JR,Foltynie T,Gao JJ,Gardner M,Gibbs JR,Goate A,Gray E,Guerreiro R,Gustafsson O,Harris C,van Hilten JJ,Hofman A,Hollenbeck A,Holton J,Hu M,Huang XM,Huber H,Hudson G,Hunt SE,Huttenlocher J,Illig T,Jonsson PV,Lambert JC,Langford C,Lees A,Lichtner P,Limousin P,Lopez G,Lorenz D,McNeill A,Moorby C,Moore M,Morris HR,Morrison KE,Mudanohwo E,O'Sullivan SS,Pearson J,Perlmutter JS,Petursson H,Pollak P,Post B,Potter S,Ravina B,Revesz T,Riess O,Rivadeneira F,Rizzu P,Ryten M,Sawcer S,Schapira A,Scheffer H,Shaw K,Shoulson I,Sidransky E,Smith C,Spencer CCA,Stefansson H,Stockton JD,Strange A,Talbot K,Tanner CM,Tashakkori-Ghanbaria A,Tison F,Trabzuni D,Traynor BJ,Uitterlinden AG,Velseboer D,Vidailhet M,Walker R,van de Warrenburg B,Wickremaratchi M,Williams N,Williams-Gray CH,Winder-Rhodes S,Stefansson K,Martinez M,Hardy J,Heutink P,Brice A,Gasser T,Singleton AB,Wood NW,Int Parkinson Dis Genomics Consort ,Wellcome Trust Case-Control Consor (2011) Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies LANCET, 377(9766), 641 - 649. 10.1016/S0140-6736(10)62345-8.
  11. Plagnol V,Nalls MA,Bras JM,Hernandez DG,Sharma M,Sheerin UM,Saad M,Simon-Sanchez J,Schulte C,Lesage S,Sveinbjornsdottir S,Amouyel P,Arepalli S,Band G,Barker RA,Bellinguez C,Ben-Shlomo Y,Berendse HW,Berg D,Bhatia K,de Bie RMA,Biffi A,Bloem B,Bochdanovits Z,Bonin M,Brockmann K,Brooks J,Burn DJ,Charlesworth G,Chen HL,Chinnery PF,Chong S,Clarke CE,Cookson MR,Cooper JM,Corvol JC,Counsell C,Damier P,Dartigues JF,Deloukas P,Deuschl G,Dexter DT,van Dijk KD,Dillman A,Durif F,Durr A,Edkins S,Evans JR,Foltynie T,Freeman C,Gao JJ,Gardner M,Gibbs JR,Goate A,Gray E,Guerreiro R,Gustafsson O,Harris C,Hellenthal G,van Hilten JJ,Hofman A,Hollenbeck A,Holton J,Hu M,Huang XM,Huber H,Hudson G,Hunt SE,Huttenlocher J,Illig T,Jonsson PV,Langford C,Lees A,Lichtner P,Limousin P,Lopez G,Lorenz D,McNeill A,Moorby C,Moore M,Morris H,Morrison KE,Mudanohwo E,O'Sullivan SS,Pearson J,Pearson R,Perlmutter JS,Petursson H,Pirinen M,Pollak P,Post B,Potter S,Ravina B,Revesz T,Riess O,Rivadeneira F,Rizzu P,Ryten M,Sawcer S,Schapira A,Scheffer H,Shaw K,Shoulson I,Sidransky E,de Silva R,Smith C,Spencer CCA,Stefansson H,Steinberg S,Stockton JD,Strange A,Su Z,Talbot K,Tanner CM,Tashakkori-Ghanbaria A,Tison F,Trabzuni D,Traynor BJ,Uitterlinden AG,Vandrovcova J,Velseboer D,Vidailhet M,Vukcevic D,Walker R,van de Warrenburg B,Weale ME,Wickremaratchi M,Williams N,Williams-Gray CH,Winder-Rhodes S,Stefansson K,Martinez M,Donnelly P,Singleton AB,Hardy J,Heutink P,Brice A,Gasser T,Wood NW,WTCCC2 (2011) A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease PLOS GENET, 7(6). 10.1371/journal.pgen.1002142.
  12. Alvarez-Erviti L,Couch Y,Richardson J,Cooper JM,Wood MJ (2011) Alpha-synuclein release by neurons activates the inflammatory response in a microglial cell line. Neurosci Res, 69(4), 337 - 342. 10.1016/j.neures.2010.12.020.
  13. Chau KY,Cooper JM,Schapira AH (2010) Rasagiline protects against alpha-synuclein induced sensitivity to oxidative stress in dopaminergic cells. Neurochem Int, 57(5), 525 - 529. 10.1016/j.neuint.2010.06.017.
  14. Rajagopalan B,Francis JM,Cooke F,Korlipara LVP,Blamire AM,Schapira AHV,Madan J,Neubauer S,Cooper JM (2010) Analysis of the Factors Influencing the Cardiac Phenotype in Friedreich's Ataxia MOVEMENT DISORD, 25(7), 846 - 852. 10.1002/mds.22864.
  15. Alvarez-Erviti L,Rodriguez-Oroz MC,Cooper JM,Caballero C,Ferrer I,Obeso JA,Schapira AHV (2010) Chaperone-Mediated Autophagy Markers in Parkinson Disease Brains ARCH NEUROL-CHICAGO, 67(12), 1464 - 1472. 10.1001/archneuro1.2010.198.
  16. Gegg ME,Cooper JM,Chau KY,Rojo M,Schapira AH,Taanman JW (2010) Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy. Hum Mol Genet, 19(24), 4861 - 4870. 10.1093/hmg/ddq419.
  17. Chau KY,Ching HL,Schapira AH,Cooper JM (2009) Relationship between alpha synuclein phosphorylation, proteasomal inhibition and cell death: relevance to Parkinson's disease pathogenesis J.Neurochem., 110(3), 1005 - 1013.
  18. Cano SJ,Riazi A,Schapira AH,Cooper JM,Hobart JC (2009) Friedreich's ataxia impact scale: a new measure striving to provide the flexibility required by today's studies Mov Disord., 24(7), 984 - 992.
  19. Chau KY,Korlipara LV,Cooper JM,Schapira AH (2009) Protection against paraquat and A53T alpha-synuclein toxicity by cabergoline is partially mediated by dopamine receptors J.Neurol.Sci., 278(1-2), 44 - 53.
  20. Gegg ME,Cooper JM,Schapira AH,Taanman JW (2009) Silencing of PINK1 expression affects mitochondrial DNA and oxidative phosphorylation in dopaminergic cells PLoS.One., 4(3), e4756.
  21. Cooper JM,Korlipara LVP,Hart PE,Bradley JL,Schapira AHV (2008) Coenzyme Q10 and vitamin E therapy in Friedreich’s ataxia: predictor of efficacy of vitamin E and coenzyme Q10 therapy. European Journal of Neurology, 15(12), 1371 - 1379. 10.1111/j.1468-1331.2008.02318.x.
  22. DiFrancesco JC,Cooper JM,Lam A,Hart PE,Tremolizzo L,Ferrarese C,Schapira AH (2008) MELAS mitochondrial DNA mutation A3243G reduces glutamate transport in cybrids cell lines. Experimental Neurology, 212(1), 152 - 156. 10.1016/j.expneurol.2008.03.015.
  23. Turner C,Cooper JM,Schapira AH (2007) Clinical correlates of mitochondrial function in Huntington's disease muscle. Movement Disorders, 22(12), 1715 - 1721. 10.1002/mds.21540.
  24. Cooper JM,Schapira AH (2007) Friedreich's ataxia: Coenzyme Q(10) and vitamin E therapy. Mitochondrion, 7(Suppl.1), S127 - S135. 10.1016/j.mito.2007.04.001.
  25. Al-Mahdawi S,Pinto RM,Varshney D,Lawrence L,Lowrie MB,Hughes S,Webster Z,Blake J,Cooper JM,King R,Pook MA (2006) GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology. Genomics, 88(5), 580 - 590. 10.1016/j.ygeno.2006.06.015.
  26. Iravani MM,Haddon CO,Cooper JM,Jenner P,Schapira AH (2006) Pramipexole protects against MPTP toxicity in non-human primates. Journal of Neurochemistry, 96(5), 1315 - 1321.
  27. Schapira AH,Cleeter MW,Muddle JR,Workman JM,Cooper JM,King RH (2006) Proteasomal inhibition causes loss of nigral tyrosine hydroxylase neurons. Annals of Neurology, 60(2), 253 - 255. 10.1002/ana.20934.
  28. Cano SJ,Riazi A,Cooper JM,Schapira AHV,Hobart JC (2006) The Friedreich's Ataxia impact scale (FAIS) meets the needs of today's clinical studies JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 77(1), 133 - 133.
  29. Cano SJ,Hobart JC,Hart PE,Kolipara LVP,Schapira AHV,Cooper JM (2006) International co-operative ataxia rating scale (ICARS): Suitable for clinical practice and treatment trials in Friedreich's ataxia? JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 77(1), 133 - 133.
  30. Riazi A,Cano SJ,Cooper JM,Bradley JL,Schapira AH,Hobart JC (2006) Coordinating outcomes measurement in ataxia research: Do some widely used generic rating scales tick the boxes? Movement Disorders, 21(9), 1396 - 1403.
  31. Gu M,Iravani MM,Cooper JM,King D,Jenner P,Schapira AHV (2005) Pramipexole protects against apoptotic cell death by non-dopaminergic mechanisms (vol 91, pg 1075, 2004) J NEUROCHEM, 92(1), 215 - 215. 10.1111/j.1471-4159.2004.02966.x.
  32. Misbahuddin A,Placzek MR,Taanman JW,Gschmeissner S,Schiavo G,Cooper JM,Warner TT (2005) Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells. Movement Disorders, 20(4), 432 - 440. 10.1002/mds.20351.
  33. Hart PE,Lodi R,Rajagopalan B,Bradley JL,Crilley JG,Turner C,Blamire AM,Manners D,Styles P,Schapira AH,Cooper JM (2005) Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up. Archives of Neurology, 62(4), 621 - 626.
  34. Lo S,Tolner B,Taanman JW,Cooper JM,Gu M,Hartley JA,Schapira AH,Hochhauser D (2005) Assessment of the significance of mitochondrial DNA damage by chemotherapeutic agents. International Journal of Oncology, 27(2), 337 - 344.
  35. Cano SJ,Hobart JC,Hart PE,Korlipara LVP,Schapira AH,Cooper JM (2005) International Cooperative Ataxia Rating Scale (ICARS): appropriate for studies of Friedreich's ataxia? Movement Disorders, 20(12), 1585 - 1591.
  36. Salinas S,Carazo-Salas RE,Proukakis C,Cooper JM,Weston AE,Schiavo G,Warner TT (2005) Human spastin has multiple microtubule-related functions. Journal of Neurochemistry, 95(5), 1411 - 1420. 10.1111/j.1471-4159.2005.03472.x.
  37. Proukakis C,Cooper JM,Taanman JW,Warner TT (2005) Cellular studies of spastin reveal no gain of function, and suggest translation from the 2nd ATG EUR J NEUROL, 12, 323 - 323.
  38. Rafique R,Schapira AHV,Cooper JM (2004) Mitochondrial respiratory chain dysfunction in ageing; Influence of vitamin E deficiency Free Radical Research, 38(2), 157 - 165.
  39. Bradley JL,Homayoun S,Hart PE,Schapira AH,Cooper JM (2004) Role of oxidative damage in Friedreich's ataxia. Neurochemical Research, 29(3), 561 - 567. 10.1023/B:NERE.0000014826.00881.c3.
  40. Korlipara LV,Cooper JM,Schapira AH (2004) Differences in toxicity of the catechol-O-methyl transferase inhibitors, tolcapone and entacapone to cultured human neuroblastoma cells. Neuropharmacology, 46(4), 562 - 569.
  41. Proukakis C,Taanman JW,Cooper JM,Warner TT (2004) Cellular studies of spastin, the protein commonly mutated in autosomal dominant hereditary spastic paraplegia (SPG4) JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 75(3), 521 - 521.
  42. Korlipara LVP,Cooper JM,Schapira AHV (2004) Oxidative stress in a neuronal model of alpha synuclein overexpression JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 75(8), 1226 - 1226.
  43. Gu M,Iravani MM,Cooper JM,King D,Jenner P,Schapira AH (2004) Pramipexole protects against apoptotic cell death by non-dopaminergic mechanisms. Journal of Neurochemistry, 91(5), 1075 - 1081.
  44. Orth M,Tabrizi SJ,Tomlinson C,Messmer K,Korlipara LVP,Schapira AHV,Cooper JM (2004) G209A mutant alpha synuclein expression specifically enhances dopamine induced oxidative damage Neurochemistry International, 45(5), 669 - 676. 10.1016/j.neuint.2004.03.029.
  45. Orth M,Tabrizi SJ,Schapira AHV,Cooper JM (2003) alpha-Synuclein expression in HEK293 cells enhances the mitochondrial sensitivity to rotenone Neuroscience Letters, 351(1), 29 - 32.
  46. Lodi R,Rajagopalan B,Schapira AH,Cooper JM (2003) Cardiac bioenergetics in Friedreich's ataxia Annals of Neurology, 54(4), 552 - 553.
  47. Misbahuddin A,Placzek MR,Taanman JW,Cooper JM,Warner TT (2003) Study of mutant and wild type torsin A in human SH-SY5Y cell lines JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 74(3), 409 - 409.
  48. Cooper JM,Schapira AHV (2003) Friedreich's Ataxia: Disease mechanisms, antioxidant and coenzyme Q_{10} therapy Biofactors, 18(1-4), 163 - 171.
  49. Cooper JM (2003) Mitochondrial dysfunction in neurodegenerative disease, 229 - 246.
  50. Orth M,Cooper JM,Bates GP,Schapira AH (2003) Inclusion formation in Huntington's disease R6/2 mouse muscle cultures Journal of Neurochemistry, 87(1), 1 - 6.

Biography

My scientific training was in the field of mitochondrial biochemistry in disease under the supervision of John Morgan-Hughes and John Clark (PhD 1987) at the Institute of Neurology, London. I characterisation the defects in patients with mitochondrial disorders which led to the identification of the first mtDNA deletions (Holt et al 1988, 1989),
 In 1990 I was appointed as Lecturer in the Department of Protein and Molecular Biology at the Royal Free Hospital Medical School, and subsequently in 1994 as Senior Lecturer in the department  of Clinical Neurosciences. In 2010 I was appointed as Reader in Neurodegenerative diseases in the department of Clinical Neurosciences UCL Institute of Neurology.
Mitochondrial function continued to play an important role in my research, studying Leber’s hereditary Optic Neuropathy (Cock et al 1995) and various other mtDNA mutations (Morten et al 1993) and demonstrated mtDNA depletion syndrome was a nuclear gene disorder (Bodnar et al 1993). I generated  an in vivo model to recapitulate the biochemical phenotypes (Cooper et al 1988) and  therapeutic evaluation (Cooper et al 1992).
Mitochondrial function in neurodegenerative diseases continues to play a larg part of my research covering ;PD (Schapira et al 1989), Alzheimer’s disease (Cooper et al 1993), HD (Gu et al  1996), Friedreich's ataxia (Bradley et al 2000), Wilson’s disease (Gu et al 2000), ageing (Cooper et al 1992) ;oxidative stress (Thomas  et al 1993, Rafique et al 2001) and increased iron (Hartley et al 1993).
Friedreich’s Ataxia (FRDA)  research made up a significant part of my work.We confirmed the role of mitochondrial dysfunction, iron accumulation (Bradley et al 2000) and oxidative damage (Bradley et al 2004) in patients with FRDA. Using 31P MRS in collaboration with Raphaele Lodi we were able to detect the  mitochondrial ox phos defects in vivo in  skeletal muscle (Lodi et al 1999)  and cardiac muscle (Lodi et al 2001).  We obtained extensive clinical data on over 70 FRDA patients involving neurological, cardiac (Rajagopalan et al 2010), speech and  limb co-ordination evaluations and evaluation of quality of life and activities of daily living for the cross sectional analysis of the natural history of FRDA (Cooper et al 2008). Long term vitamin E and coenzyme Q10 therapy trials identified an improvement in mitochondrial function (Lodi et al 2001, Hart et al 2005)  and clinical scores (Cooper et al 2008). We have evaluated the ICARS scale  for the evaluation of FRDA (Cano et al 2005, Metz et al 2013) and generated a new validated patient scale – Friedreich’s Ataxia Impact Scale (FAIS) (Cano et al 2009). I have collaborated with Mark Pook in the analysis of a transgenic mouse model (Pook et al 2001, Al-Mahdawi et al 2006).

Qualifications

  • 1987: Doctor of Philosophy, London
  • 1983: Bachelor of Science (Honours), University of Hull

Keywords

  • Alpha-synuclein
  • Autophagy
  • Cell culture
  • Clinical trials
  • Cross-sectional and cohort studies
  • Enzyme assays
  • Fluorescence microscopy techniques
  • Friederich's ataxia
  • Genetic manipulation (including knockout/knockin)
  • Genetically encoded reporters/indicators
  • Huntington's disease
  • Mitochondria
  • Mitochondrial encephalomyopathies
  • Neurodegeneration
  • Neurodegenerative Diseases
  • Parkinson's disease
  • Protein aggregation
  • Protein transport/localisation
  • Randomized Controlled Trials (RCTs)