Patrick F Chinnery

Summary

Affiliation: University of Newcastle
Country: UK

Publications

  1. pmc Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy
    Gavin Hudson
    Mitochondrial Research Group, Institute of Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
    Mol Vis 15:870-5. 2009
  2. pmc Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy
    Gavin Hudson
    Institute for Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Mol Vis 16:2760-4. 2010
  3. pmc Multi-system neurological disease is common in patients with OPA1 mutations
    P Yu-Wai-Man
    Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Brain 133:771-86. 2010
  4. pmc Gene-environment interactions in Leber hereditary optic neuropathy
    Matthew Anthony Kirkman
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, UK
    Brain 132:2317-26. 2009
  5. pmc Preventing the transmission of pathogenic mitochondrial DNA mutations: Can we achieve long-term benefits from germ-line gene transfer?
    David C Samuels
    Department of Molecular Physiology and Biophysics, Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, USA
    Hum Reprod 28:554-9. 2013
  6. pmc Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations
    Brendan A I Payne
    Mitochondrial Research Group, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Nat Genet 43:806-10. 2011
  7. pmc Unique mitochondrial DNA in highly inbred feral cattle
    Gavin Hudson
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Mitochondrion 12:438-40. 2012
  8. doi request reprint Leber hereditary optic neuropathy
    Gavin Hudson
    Newcastle University, Mitochondrial Research Group, M4014, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK 44 191 222 8233 44 191 222 8553
    Expert Opin Med Diagn 2:789-99. 2008
  9. pmc Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load
    Kieren G Hollingsworth
    Newcastle Magnetic Resonance Centre, Institute of Cellular Medicine, Newcastle University, Campus for Ageing and Vitality, NE4 5PL, UK
    Neuromuscul Disord 22:592-6. 2012
  10. pmc A critical analysis of the combined usage of protein localization prediction methods: Increasing the number of independent data sets can reduce the accuracy of predicted mitochondrial localization
    Kieren T Lythgow
    Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Mitochondrion 11:444-9. 2011

Detail Information

Publications167 found, 100 shown here

  1. pmc Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy
    Gavin Hudson
    Mitochondrial Research Group, Institute of Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
    Mol Vis 15:870-5. 2009
    ..Folate deficiency is known to cause bilateral optic neuropathy, and defects of folate metabolism have been associated with nonarteritic ischemic optic neuropathy...
  2. pmc Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy
    Gavin Hudson
    Institute for Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Mol Vis 16:2760-4. 2010
    ....
  3. pmc Multi-system neurological disease is common in patients with OPA1 mutations
    P Yu-Wai-Man
    Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Brain 133:771-86. 2010
    ....
  4. pmc Gene-environment interactions in Leber hereditary optic neuropathy
    Matthew Anthony Kirkman
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, UK
    Brain 132:2317-26. 2009
    ..Based on these findings, asymptomatic carriers of a LHON mtDNA mutation should be strongly advised not to smoke and to moderate their alcohol intake...
  5. pmc Preventing the transmission of pathogenic mitochondrial DNA mutations: Can we achieve long-term benefits from germ-line gene transfer?
    David C Samuels
    Department of Molecular Physiology and Biophysics, Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, USA
    Hum Reprod 28:554-9. 2013
    ..Our findings provide reassurance that, at least from an mtDNA perspective, methods currently under development have the potential to effectively eradicate pathogenic mtDNA mutations from subsequent generations...
  6. pmc Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations
    Brendan A I Payne
    Mitochondrial Research Group, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Nat Genet 43:806-10. 2011
    ..These observations add weight to the role of somatic mtDNA mutations in the aging process and raise the specter of progressive iatrogenic mitochondrial genetic disease emerging over the next decade...
  7. pmc Unique mitochondrial DNA in highly inbred feral cattle
    Gavin Hudson
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Mitochondrion 12:438-40. 2012
    ..Random population sampling of ~10% of the extant herd identified a single mtDNA haplotype harbouring a unique bovine variant present in all other higher mammals (m.11789C/Y421H) which may contribute to their survival...
  8. doi request reprint Leber hereditary optic neuropathy
    Gavin Hudson
    Newcastle University, Mitochondrial Research Group, M4014, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK 44 191 222 8233 44 191 222 8553
    Expert Opin Med Diagn 2:789-99. 2008
    ..Management is largely supportive, with the provision of low-vision aids, registration with the relevant social services and an important role for genetic counselling...
  9. pmc Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load
    Kieren G Hollingsworth
    Newcastle Magnetic Resonance Centre, Institute of Cellular Medicine, Newcastle University, Campus for Ageing and Vitality, NE4 5PL, UK
    Neuromuscul Disord 22:592-6. 2012
    ..3243A>G. The early detection of cardiac dysfunction with MRI opens up opportunities to prevent heart failure in these patients through early intervention...
  10. pmc A critical analysis of the combined usage of protein localization prediction methods: Increasing the number of independent data sets can reduce the accuracy of predicted mitochondrial localization
    Kieren T Lythgow
    Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Mitochondrion 11:444-9. 2011
    ..This approach will help to accelerate the identification of new mitochondrial disease genes by providing a principled way for the selection for combination of appropriate prediction methods of mitochondrial localization of proteins...
  11. pmc The inheritance of pathogenic mitochondrial DNA mutations
    L M Cree
    Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, UK
    Biochim Biophys Acta 1792:1097-102. 2009
    ..Here we compare and contrast these findings and discuss their relevance for the transmission of human mtDNA diseases...
  12. pmc The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study
    Jeanne C Latourelle
    Department of Neurology, Boston University School of Medicine, Boston University, Boston, MA, USA
    BMC Med 6:32. 2008
    ..Studies of the penetrance of LRRK2 mutations have produced a wide range of estimates, possibly due to differences in study design and recruitment, including in particular differences between samples of familial PD versus sporadic PD...
  13. ncbi request reprint 116th ENMC international workshop: the treatment of mitochondrial disorders, 14th-16th March 2003, Naarden, The Netherlands
    P F Chinnery
    Department of Neurology, The Medical School, University of Newcastle upon Tyne, Framlington Place, NE2 4HH, Newcastle upon Tyne, UK
    Neuromuscul Disord 13:757-64. 2003
  14. pmc Mitochondria
    P F Chinnery
    Department of Neurology, The University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    J Neurol Neurosurg Psychiatry 74:1188-99. 2003
    ..The next major challenge is to define the more subtle interactions between nuclear and mitochondrial genes in health and disease...
  15. pmc Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls
    P F Chinnery
    Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, UK
    J Med Genet 44:e80. 2007
    ..By studying 897 UK cases of type 2 diabetes and 1010 population-matched controls, it is shown that European mtDNA haplogroups are unlikely to play a major role in the risk of developing the disorder...
  16. ncbi request reprint Risk of developing a mitochondrial DNA deletion disorder
    Patrick F Chinnery
    Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Lancet 364:592-6. 2004
    ..Many patients with mtDNA disease harbour a single pathogenic mtDNA deletion, but the risk factors for new cases and disease recurrence are not known...
  17. ncbi request reprint Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres
    P F Chinnery
    Department of Neurology, The Medical School, The University of Newcastle upon Tyne, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    J Neurol Sci 211:63-6. 2003
    ..The clinical progression of mtDNA myopathy is therefore a consequence of a biochemical defect that develops independently within individual muscle fibres. It is likely that this is due to the clonal expansion of mutant mtDNA...
  18. pmc Neuroferritinopathy in a French family with late onset dominant dystonia
    P F Chinnery
    Department of Neurology, The University of Newcastle upon Tyne, UK
    J Med Genet 40:e69. 2003
  19. ncbi request reprint Genetics in reverse
    Patrick F Chinnery
    Department of Neurology, University of Newcastle upon, Tyne, UK
    Lancet 363:290. 2004
  20. ncbi request reprint Role of the mitochondrial DNA 16184-16193 poly-C tract in type 2 diabetes
    P F Chinnery
    Mitochondrial Research Group, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Lancet 366:1650-1. 2005
    ..16, 95% CI 0.94-1.44). Genetic variation of the 16184-16193 poly-C tract is unlikely to have a major role in the cause of type 2 diabetes...
  21. ncbi request reprint New approaches to the treatment of mitochondrial disorders
    Patrick F Chinnery
    Department of Neurology, Medical School, Framlington Place, The University of Newcastle upon Tyne, NE2 4HH, UK
    Reprod Biomed Online 8:16-23. 2004
    ..Nuclear transfer techniques also provide hope for women at risk of transmitting pathogenic mtDNA mutations...
  22. pmc OPA1 increases the risk of normal but not high tension glaucoma
    P Yu Wai Man
    Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK
    J Med Genet 47:120-5. 2010
    ..75, 95% CI=3.83 to 231.21, p=0.001). Conclusions The CT/TT compound genotype at IVS8+4 and IVS8+32 is a strong genetic risk determinant for NTG but not HTG...
  23. pmc Mitochondrial DNA haplogroups and risk of transient ischaemic attack and ischaemic stroke: a genetic association study
    Patrick F Chinnery
    Mitochondrial Research Group, Institute for Ageing and Health and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Lancet Neurol 9:498-503. 2010
    ..We investigated whether there is an association between mtDNA haplotypes and incidence of stroke...
  24. ncbi request reprint 155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands
    Patrick F Chinnery
    Mitochondrial Research Group and Institutes of Neuroscience and Human Genetics, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    Neuromuscul Disord 18:259-67. 2008
  25. ncbi request reprint Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation
    Patrick F Chinnery
    Institute of Human Genetics, University of Newcastle upon Tyne, UK
    Brain 130:110-9. 2007
    ..Depressed serum ferritin is common and provides a useful screening test in routine practice, and gradient echo brain MRI will identify all symptomatic cases...
  26. ncbi request reprint Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene
    P F Chinnery
    Department of Neurology, The University of Newcastle upon Tyne, UK
    Neurology 63:710-2. 2004
    ....
  27. ncbi request reprint Limbic encephalitis: Not a picture to forget
    Patrick F Chinnery
    Newcastle upon Tyne, United Kingdom
    Neurology 62:1019. 2004
  28. ncbi request reprint Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
    P F Chinnery
    Department of Neurology, The University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Am J Med Genet 98:235-43. 2001
    ....
  29. ncbi request reprint Nonrandom tissue distribution of mutant mtDNA
    P F Chinnery
    Department of Neurology, The University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
    Am J Med Genet 85:498-501. 1999
    ..The probability of observing any strict hierarchy in family is 4.82 x 10(-5). These results indicate that the distribution of the A3243G mutation is not solely determined by random processes...
  30. ncbi request reprint No correlation between muscle A3243G mutation load and mitochondrial function in vivo
    P F Chinnery
    Department of Neurology, The University of Newcastle upon Tyne, UK
    Neurology 56:1101-4. 2001
    ..Factors besides mutation load, such as nuclear genes, influence expression of the A3243G mutation in vivo...
  31. ncbi request reprint The spectrum of hearing loss due to mitochondrial DNA defects
    P F Chinnery
    Department of Neurology, The University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Brain 123:82-92. 2000
    ..These findings are consistent with a predominantly cochlear origin for the hearing deficit, which is determined by the precise genetic defect and the percentage mutation load...
  32. ncbi request reprint Late-onset axial jerky dystonia due to the DYT1 deletion
    Patrick F Chinnery
    Department of Neurology, The University of Newcastle upon Tyne, United Kingdom
    Mov Disord 17:196-8. 2002
    ..She recalled that her symptoms began 62 years prior to study and remained unchanged for 40 years, illustrating the broad phenotype of DYT1 idiopathic torsion dystonia...
  33. ncbi request reprint Modulating heteroplasmy
    Patrick F Chinnery
    Dept of Neurology, The Medical School, Newcastle upon Tyne NE2 4HH, UK
    Trends Genet 18:173-6. 2002
    ..Factors that modulate the mutation load are poorly understood, but recent work has started to unravel the mechanisms. In certain circumstances heteroplasmy might be regulated at the level of the individual mitochondrial genome...
  34. ncbi request reprint Normokalemic periodic paralysis revisited: does it exist?
    Patrick F Chinnery
    Department of Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
    Ann Neurol 52:251-2. 2002
    ..We identified the Met1592Val mutation of SCN4A in an affected descendent of this original normoKPP family. This is the final piece in the puzzle: normoKPP is actually a variant of hyperKPP and is not a distinct disorder...
  35. pmc Relaxed replication of mtDNA: A model with implications for the expression of disease
    P F Chinnery
    Department of Neurology, The University of Newcastle upon Tyne, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, United Kingdom
    Am J Hum Genet 64:1158-65. 1999
    ..The hypothesis that we present is in accordance with the available data and may explain the late presentation and insidious progression of mtDNA diseases...
  36. ncbi request reprint Mutations in SUCLA2: a tandem ride back to the Krebs cycle
    Patrick F Chinnery
    Mitochondrial Research Group and Institute of Human Genetics, Newcastle University, The Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    Brain 130:606-9. 2007
  37. ncbi request reprint Searching for nuclear-mitochondrial genes
    Patrick F Chinnery
    Neurology, The Medical School, Framlington Place, NE2 4HH, Newcastle upon Tyne, UK
    Trends Genet 19:60-2. 2003
    ..These genes could cast light on the intricate relationship between genotype and phenotype in a wide range of inherited human diseases...
  38. ncbi request reprint Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?
    Patrick F Chinnery
    Departments of Neurology, University of Newcastle upon Tyne, NE2 4HH, Newcastle upon Tyne, UK
    Lancet 360:1323-5. 2002
    ..The accumulation of cells that contain high levels of mutant mtDNA may be an inevitable result of the normal mechanisms that maintain cellular concentrations of mtDNA...
  39. pmc Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder
    Gavin Hudson
    Mitochondrial Research Group, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, United Kingdom
    Am J Hum Genet 77:1086-91. 2005
    ..This effect is independent of the mtDNA genetic background and explains the variable penetrance and sex bias that characterizes this disorder...
  40. ncbi request reprint Prevalence of mitochondrial DNA disease in adults
    Andrew M Schaefer
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, Newcastle University, Newcastle upon Tyne, United Kingdom
    Ann Neurol 63:35-9. 2008
    ..Consequently, the aim of this study was to accurately define the prevalence of mtDNA disease (primary mutation occurs in mtDNA) in the working-age population of the North East of England...
  41. ncbi request reprint Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism
    Gavin Hudson
    Mitochondrial Research Group, University of Newcastle upon Tyne, United Kingdom
    Arch Neurol 64:553-7. 2007
    ..To define the molecular basis of the autosomal dominant progressive external ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder...
  42. ncbi request reprint Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance
    Gavin Hudson
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Brain 131:329-37. 2008
    ..This demonstrates the importance of OPA1 in mtDNA maintenance, and implicates OPA1 in diseases associated with secondary defects of mtDNA...
  43. pmc Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy
    Patrick Yu-Wai-Man
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom
    Invest Ophthalmol Vis Sci 50:4561-6. 2009
    ..To explore this hypothesis, the authors looked for evidence of mitochondrial dysfunction in a mouse model of DOA and documented the visual and neurologic progression in aging mutant mice...
  44. doi request reprint POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts
    Joanna D Stewart
    Mitochondrial Research Group, Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Biochim Biophys Acta 1812:321-5. 2011
    ....
  45. ncbi request reprint A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes
    Lynsey M Cree
    Mitochondrial Research Group, Newcastle University, Newcastle NE2 4HH, UK
    Nat Genet 40:249-54. 2008
    ....
  46. ncbi request reprint Quality of life in patients with leber hereditary optic neuropathy
    Matthew Anthony Kirkman
    Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom
    Invest Ophthalmol Vis Sci 50:3112-5. 2009
    ..In this study, the first formal assessment was conducted of visual disability in affected and unaffected individuals from molecularly confirmed LHON pedigrees...
  47. pmc Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON
    Gavin Hudson
    Institute for Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Mitochondrion 11:620-2. 2011
    ..Our findings suggest that genetic variation in MAPT is unlikely to make a major contribution to the risk of blindness among LHON mutation carriers...
  48. ncbi request reprint Minimum prevalence of spinocerebellar ataxia 17 in the north east of England
    Kate Craig
    Neurology, The University of Newcastle upon Tyne, United Kingdom
    J Neurol Sci 239:105-9. 2005
    ..To determine the minimum prevalence of spinocerebellar ataxia type 17 (SCA17) in the north east of England...
  49. pmc Pathogenic mitochondrial DNA mutations are common in the general population
    Hannah R Elliott
    Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, UK
    Am J Hum Genet 83:254-60. 2008
    ..The exclusive detection of m.14484T-->C on haplogroup J implicates the background mtDNA haplotype in mutagenesis. These findings emphasize the importance of developing new approaches to prevent transmission...
  50. pmc Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers
    Matthew G D Bates
    Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK
    Eur Heart J Cardiovasc Imaging 14:650-8. 2013
    ..Screening strategies for cardiac disease are unclear. We investigated whether myocardial abnormalities could be identified in mitochondrial DNA mutation carriers without clinical cardiac involvement...
  51. pmc Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
    Gerald Pfeffer
    1 Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Brain 137:1323-36. 2014
    ..The complex neurological phenotype is likely a result of the clonal expansion of secondary mitochondrial DNA mutations modulating the phenotype, driven by compensatory mitochondrial biogenesis. ..
  52. ncbi request reprint X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy
    Gavin Hudson
    Mitochondrial Research Group, Newcastle University, UK
    Mol Vis 13:2339-43. 2007
    ..Small studies have failed to detect dramatic skewed X-inactivation in women transmitting LHON mutations. However, segregation analyses predicted skewing only in a proportion of women, which would not have been detected in these studies...
  53. pmc What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
    Vivienne C M Neeve
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Brain 135:3614-26. 2012
    ..Our results suggest that the mitochondrial DNA background plays an important role in modifying the disease phenotype but nuclear modifiers, epigenetic and environmental factors may also influence the severity of disease...
  54. pmc The prevalence and natural history of dominant optic atrophy due to OPA1 mutations
    Patrick Yu-Wai-Man
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, UK
    Ophthalmology 117:1538-46, 1546.e1. 2010
    ..To define the prevalence and natural history of this optic nerve disorder, we performed a population-based epidemiologic and molecular study of presumed DOA cases in the north of England...
  55. ncbi request reprint Apolipoprotein E promoter polymorphisms do not have a major influence on the risk of developing primary open angle glaucoma
    Thomas Ressiniotis
    Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom
    Mol Vis 10:805-7. 2004
    ..Recent genetic association studies have implicated the apolipoprotein E (APOE) gene in the pathophysiology of primary open angle glaucoma, but there have been conflicting findings...
  56. ncbi request reprint Genotypes from patients indicate no paternal mitochondrial DNA contribution
    Robert W Taylor
    School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
    Ann Neurol 54:521-4. 2003
    ..Our findings suggest that paternal transmission of mtDNA is rare and should not alter our genetic advice to families...
  57. ncbi request reprint Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
    Robert W Taylor
    Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, England
    JAMA 312:68-77. 2014
    ....
  58. pmc Titin mutation segregates with hereditary myopathy with early respiratory failure
    Gerald Pfeffer
    Institute of Genetic Medicine, Central Parkway, Newcastle, NE1 3BZ, UK
    Brain 135:1695-713. 2012
    ..With 363 exons, screening TTN presented a major challenge until recently. However, whole exome sequencing provides a reliable cost-effective approach, providing the gene of interest is adequately captured...
  59. ncbi request reprint Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3
    Rita Horvath
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    J Neurol Neurosurg Psychiatry 83:174-8. 2012
    ..Inherited ataxias are heterogeneous disorders affecting both children and adults. The primary cause can be identified in about half of the patients and only very few can receive causative therapy...
  60. ncbi request reprint Changes in the human mitochondrial genome after treatment of malignant disease
    Theresa M Wardell
    Department of Neurology, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, UK
    Mutat Res 525:19-27. 2003
    ..Our studies have shown that in patients who have been treated for cancer there is an increased level of mtDNA damage...
  61. ncbi request reprint Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure
    Gerald Pfeffer
    Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK
    J Neurol Neurosurg Psychiatry 85:331-8. 2014
    ..Some of the original patients had features resembling myofibrillar myopathy (MFM), arguing that TTN mutations could be a much more common cause of inherited muscle disease, especially in presence of early respiratory involvement...
  62. pmc Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
    Gavin Hudson
    Mitochondrial Research Group, Department of Ophthalmology and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Am J Hum Genet 81:228-33. 2007
    ..Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder...
  63. pmc Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
    Gerald Pfeffer
    Institute of Genetic Medicine, Central Parkway, Newcastle, UK
    J Neurol Neurosurg Psychiatry 83:883-6. 2012
    ..The authors report two families with onset of ataxia in adulthood (with pyramidal dysfunction and/or peripheral neuropathy variably present), who are clinically indistinguishable from other spinocerebellar ataxia patients...
  64. ncbi request reprint Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells
    Martina T McDonnell
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Framlington Place, Newcastle upon Tyne, UK
    Eur J Hum Genet 12:778-81. 2004
    ..These data strongly support the use of urinary epithelial cells as the tissue of choice in the noninvasive diagnosis of the 3243A > G mutation...
  65. ncbi request reprint Mitochondrial DNA polymerase-gamma and human disease
    Gavin Hudson
    Mitochondrial Research Group and Institute of Human Genetics, M41014, The Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    Hum Mol Genet 15:R244-52. 2006
    ..Transgenic mice and biochemical studies of recombinant mutated proteins are helping to unravel mechanisms of pathogenesis, and patterns are beginning to emerge relating genotype to phenotype...
  66. ncbi request reprint Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation
    Robert McFarland
    Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, United Kingdom
    Ann Neurol 55:478-84. 2004
    ..Furthermore, variation in phenotype between homoplasmic individuals implies a crucial contribution from the nuclear genetic environment in determining the clinical outcome of mt-tRNA mutations...
  67. pmc Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy
    Rita Horvath
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK
    Brain 132:3165-74. 2009
    ..This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis...
  68. pmc Diagnosis and treatment of mitochondrial myopathies
    Gerald Pfeffer
    Institute of Genetic Medicine, Newcastle University, Newcastle NE13BZ, United Kingdom
    Ann Med 45:4-16. 2013
    ..Emphasis is placed on practical management considerations while including some recent updates in the field...
  69. pmc Universal heteroplasmy of human mitochondrial DNA
    Brendan A I Payne
    Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastleupon Tyne NE1 3BZ, UK
    Hum Mol Genet 22:384-90. 2013
    ..Ostensibly de novo somatic mtDNA mutations, seen in mtDNA maintenance disorders and neurodegenerative disease and aging, will partly be due to the clonal expansion of low-level inherited variants...
  70. ncbi request reprint A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy
    Rita Horvath
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
    Mov Disord 27:789-93. 2012
    ..Neurodegeneration with brain iron accumulation is clinically and genetically heterogeneous because of mutations in at least 7 nuclear genes...
  71. pmc Distinct critical cerebellar subregions for components of verbal working memory
    Freya E Cooper
    Institute of Neuroscience, Newcastle University, UK
    Neuropsychologia 50:189-97. 2012
    ..The work confirms the involvement of the cerebellum in verbal working memory and defines specific subsystems for this within the cerebellum...
  72. ncbi request reprint Mitochondrial DNA and survival after sepsis: a prospective study
    Simon V Baudouin
    University Department of Surgical and Reproductive Sciences, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Lancet 366:2118-21. 2005
    ..We investigated whether haplogroup H, the most common type of mitochondrial DNA (mtDNA) in Europe, contributes to the subtle genetic variation in survival after sepsis...
  73. ncbi request reprint Allelic variation of a functional polymorphism in the serotonin transporter gene and depression in Parkinson's disease
    David J Burn
    Department of Neurology, University of Newcastle upon Tyne, UK
    Parkinsonism Relat Disord 12:139-41. 2006
    ..Using a logistic regression model we found no evidence for an association between 5-HTTLPR genotypes, or the presence of the S allele, and depression...
  74. pmc Mitochondrial DNA mutations in human colonic crypt stem cells
    Robert W Taylor
    Department of Neurology, The Medical School, University of Newcastle upon Tyne, United Kingdom
    J Clin Invest 112:1351-60. 2003
    ..These studies have important consequences not only for understanding of the finding of mtDNA mutations in aging tissues and tumors, but also for determining the frequency of mtDNA mutations within a cell...
  75. ncbi request reprint The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy
    Joanna L Elson
    Department of Neurology, University of Newcastle upon Tyne, The Medical School, Framlington Place, NE2 4HH, Newcastle upon Tyne, UK
    Neuromuscul Disord 12:858-64. 2002
    ..The findings have important implications for our understanding of the pathogenesis and progression of mitochondrial DNA myopathy...
  76. pmc Genetic variations within the OPA1 gene are not associated with neuromyelitis optica
    Kamil S Sitarz
    Mitochondrial Research Group, Institute of Genetic Medicine, Newcastle University, UK
    Mult Scler 18:240-3. 2012
    ..We therefore screened for OPA1 in 32 patients with NMO. No pathogenic mutations were found, and none of the 13 single-nucleotide polymorphisms identified were associated with an increased risk of developing NMO...
  77. pmc A polymorphism at codon 31 of gene p21 is not associated with primary open angle glaucoma in Caucasians
    Thomas Ressiniotis
    Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
    BMC Ophthalmol 5:5. 2005
    ..The aim of this study was to test the hypothesis that a p21 codon 31 polymorphism is associated with POAG on a Caucasian cohort...
  78. pmc No evidence of substantia nigra telomere shortening in Parkinson's disease
    Gavin Hudson
    Mitochondrial Research Group, Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Neurobiol Aging 32:2107.e3-5. 2011
    ..We conclude that telomere shortening is unlikely to be involved in the pathogenesis of PD...
  79. ncbi request reprint Neuroferritinopathy: a window on the role of iron in neurodegeneration
    Douglas E Crompton
    Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne NE1 3BZ, United Kingdom
    Blood Cells Mol Dis 29:522-31. 2002
    ..This rare disease provides evidence of a central role for iron metabolism in neurodegenerative disorders...
  80. ncbi request reprint A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis
    Robert McFarland
    Mitochondrial Research Group, Department of Neurology, Neurobiology and Psychiatry, The Medical School, University of Newcastle upon Tyne, Framlington Place, NE2 4HH, UK
    Neuromuscul Disord 14:162-6. 2004
    ..We believe that this study demonstrates the importance of whole mitochondrial genome sequencing and of access to large sequence databases...
  81. pmc Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G
    Steve E Durham
    Mitochondrial Research Group, Newcastle University, Newcastle, UK
    Am J Hum Genet 81:189-95. 2007
    ....
  82. ncbi request reprint What causes mitochondrial DNA deletions in human cells?
    Kim J Krishnan
    Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Nat Genet 40:275-9. 2008
    ..This conclusion has important implications for prevention of mtDNA disease and, potentially, for our understanding of the aging process...
  83. pmc Dissociation of duration-based and beat-based auditory timing in cerebellar degeneration
    Manon Grube
    Newcastle Auditory Group, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom
    Proc Natl Acad Sci U S A 107:11597-601. 2010
    ..The findings support the existence of a stopwatch-like cerebellar timing mechanism for absolute intervals that is distinct from mechanisms for entrainment with a regular beat...
  84. pmc Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency
    John P Kemp
    Mitochondrial Research Group, Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Brain 134:183-95. 2011
    ....
  85. ncbi request reprint POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
    G Hudson
    Mitochondrial Research Group, The Medical School, University of Newcastle upon Tyne, UK
    Neurology 66:1439-41. 2006
    ..None had a mutation in C10ORF2 or ANT1. In the majority of patients, the primary nuclear genetic defect is likely to affect other unknown genes important for mtDNA maintenance...
  86. pmc Genetic variation of CHRNA4 does not modulate attention in Parkinson's disease
    Gavin Hudson
    Mitochondrial Research Group, University of Newcastle upon Tyne, United Kingdom
    Neurosci Lett 479:123-5. 2010
    ..We conclude that CHRNA4:rs1044396 genotypes do not significantly influence the attentional deficit found in PD patients. Contrary to previous studies, we also found no significant influence in healthy age-matched controls...
  87. ncbi request reprint The epidemiology of mitochondrial disorders--past, present and future
    Andrew M Schaefer
    Mitochondrial Research Group, University of Newcastle upon Tyne, UK
    Biochim Biophys Acta 1659:115-20. 2004
    ....
  88. ncbi request reprint Late-onset mitochondrial disorder with electromyographic evidence of myotonia
    Mathew L P Howse
    Department of Neurology, Middlesbrough General Hospital, Middlesbrough, Teeside, United Kingdom
    Muscle Nerve 28:757-9. 2003
    ..Myotonia has not previously been described in association with mitochondrial disease and this report extends the known phenotypic expression of these disorders...
  89. pmc Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis
    Angela Pyle
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Framlington Place, Newcastle, NE2 4HH, UK
    Intensive Care Med 36:956-62. 2010
    ..We have investigated the cellular basis of the mtDNA depletion in sepsis, and determined clinical correlates with mtDNA depletion...
  90. pmc Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity
    Joanna D Stewart
    Mitochondrial Research Group, Institute of Human Genetics, Newcastle University, UK
    Hepatology 52:1791-6. 2010
    ..Therapeutic doses of VPA inhibited human cellular proliferation and high doses caused nonapoptotic cell death, which was not mediated through mitochondrial DNA depletion, mutation, or a defect of fatty acid metabolism...
  91. ncbi request reprint POLG1 in idiopathic Parkinson disease
    W Tiangyou
    Department of Neurology, University of Newcastle upon Tyne, UK
    Neurology 67:1698-700. 2006
    ..Our observations do not support a role for common POLG1 genetic variants in PD and indicate that dominant POLG1 mutations are a rare cause of parkinsonism in the general population...
  92. ncbi request reprint Spectrum of movement disorders in neuroferritinopathy
    Douglas E Crompton
    Department of Neurology, Regional Neurosciences Centre, Newcastle upon Tyne, United Kingdom
    Mov Disord 20:95-9. 2005
    ..The diagnosis should therefore be considered in patients with a wide variety of different movement disorders. Characteristic neuroimaging assists in identifying affected individuals...
  93. ncbi request reprint Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease
    A R Curtis
    Institute of Human Genetics, 19 20 Claremont Place, Newcastle upon Tyne, NE2 4AA, UK
    Nat Genet 28:350-4. 2001
    ..An abnormality in ferritin strongly indicates a primary function for iron in the pathogenesis of this new disease, for which we propose the name 'neuroferritinopathy'...
  94. ncbi request reprint Is selection required for the accumulation of somatic mitochondrial DNA mutations in post-mitotic cells?
    S E Durham
    Mitochondrial Research Group M4014, The Medical School, University of Newcastle upon Tyne, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    Neuromuscul Disord 16:381-6. 2006
    ..Treatments that enhance mtDNA replication, such as vigorous excercise, could amplify this process, with potentially detrimental long-term consequences...
  95. ncbi request reprint The epidemiology of pathogenic mitochondrial DNA mutations
    P F Chinnery
    Department of Neurology, The University of Newcastle upon Tyne, UK
    Ann Neurol 48:188-93. 2000
    ..These findings have resource implications, particularly for supportive care and genetic counseling...
  96. ncbi request reprint The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
    P F Chinnery
    Department of Neurology, The University of Newcastle upon Tyne, Newcastle upon Tyne, King s College Hospital, London, UK
    Brain 124:209-18. 2001
    ..These findings suggest that the mtDNA ND6 gene should be sequenced in all patients with LHON who do not harbour one of the three common LHON mutations...
  97. ncbi request reprint Mitochondrial DNA copy number threshold in mtDNA depletion myopathy
    S E Durham
    Mitochondrial Research Group, The University of Newcastle upon Tyne, UK
    Neurology 65:453-5. 2005
    ..This defines the minimum amount of wild-type mtDNA molecules required to maintain COX activity in skeletal muscle and provides an explanation for the mosaic histochemical pattern seen in patients with mtDNA depletion syndrome...