Staff Profile
Dr Helen Tuppen
Senior Research Associate
- Telephone: +44 (0) 191 208 3098
- Address: Mitochondrial Research Group
Newcastle University
Medical School
Framlington Place
Newcastle upon Tyne
NE2 4HH
UK
Publications
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Articles
- Stephenson EJ, Bailey LJ, Gentleman S, Tuppen H, Bodi I, Troakes C, Morris CM, Carr TM, Guthrie S, Elson JL, Pienaar IS. Type-Specific Single-Neuron Analysis Reveals Mitochondrial DNA Maintenance Failure Affecting Atrophying Pontine Neurons Differentially in Lewy Body Dementia Syndromes. Aging Cell 2025, Epub ahead of print.
- Faitg J, Davey T, Laws R, Lawless C, Tuppen H, Fitton E, Turnbull D, Vincent AE. Mapping mitochondrial morphology and function: COX-SBFSEM reveals patterns in mitochondrial disease. Communications Biology 2025, 8, 24.
- McDonald C, Alderson C, Birkbeck MG, Del Din S, Gorman GS, Hollingsworth KG, Kirk C, Massarella C, Rochester L, Tuppen HAL, Warren C, Sayer AA, Witham MD. Effect of acipimox on skeletal muscle biochemistry, structure and function in older people with probable sarcopenia: an experimental medicine study. GeroScience 2025, Epub ahead of print.
- Hipps D, Pyle A, Porter ALR, Dobson PF, Tuppen H, Lawless C, Russell OM, Turnbull DM, Deehan DJ, Hudson G. Variant load of mitochondrial DNA in single human mesenchymal stem cells. Scientific Reports 2024, 14(1), 20989.
- McDonald C, Alderson C, Birkbeck MG, Brown L, Del Din S, Gorman G, Hollingsworth KG, Massarella C, Rehman R, Rochester L, Sayer AA, Su H, Tuppen HAL, Warren C, Witham MD. A study protocol to investigate if Acipimox improves muscle function and sarcopenia –an open-label, uncontrolled, before-and-after experimental medicine feasibility study in community dwelling older adults. BMJ Open 2024, 14, e076518.
- Abouhajar A, Alcock L, Bigirumurame T, Bradley P, Brown L, Campbell I, Del Din S, Faitg J, Falkous G, Gorman GS, Lakey R, McFarland R, Newman J, Rochester L, Ryan V, Smith H, Steel A, Stefanetti RJ, Su H, Taylor RW, Thomas NJP, Tuppen H, Vincent AE, Warren C, Watson G. Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy. Trials 2022, 23(1), 789.
- Lehmann D, Tuppen HAL, Campbell G, Alston CL, Lawless C, Rosa HS, Rocha MC, Reeve AK, Nicholls TJ, Deschauer M, Zierz S, Taylor RW, Turnbull DM, Vincent AE. Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level. Nucleic Acids Research 2019, 47(14), 7430–7443.
- Rocha MC, Rosa HS, Grady JP, Blakely EL, He L, Romain N, Haller RG, Newman J, McFarland R, Ng YS, Gorman GS, Schaefer AM, Tuppen HA, Taylor RW, Turnbull DM. Pathological mechanisms underlying single large-scale mitochondrial DNA deletions. Annals of Neurology 2018, 83(1), 115-130.
- Hyslop LA, Blakeley P, Craven L, Richardson J, Fogarty NME, Fragouli E, Lamb M, Wamaitha SE, Prathalingam N, Zhang Q, O'Keefe H, Takeda Y, Arizzi L, Alfarawati S, Tuppen H, Irving L, Kalleas D, Choudhary M, Wells D, Murdoch AP, Turnbull DM, Niakan KK, Herbert M. Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease. Nature 2016, 534(7607), 383-386.
- Perli E, Fiorillo A, Giordano C, Pisano A, Montanari A, Grazioli P, Campese AF, Di Micco P, Tuppen HA, Genovese I, Poser E, Preziuso C, Taylor RW, Morea V, Colotti G, d'Amati G. Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations. Human Molecular Genetics 2016, 25(5), 903-915.
- Rygiel KA, Tuppen HA, Grady JP, Vincent A, Blakely EL, Reeve AK, Taylor RW, Picard M, Miller J, Turnbull DM. Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis. Nucleic Acids Research 2016, 44(11), 5313-5329.
- Rygiel KA, Grady JP, Taylor RW, Tuppen HAL, Turnbull DM. Triple real-time PCR - an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells. Scientific Reports 2015, 5, 9906.
- Lehmann D, Schubert K, Joshi PR, Hardy SA, Tuppen HAL, Baty K, Blakely EL, Bamberg C, Zierz S, Deschauer M, Taylor RW. Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy. European Journal of Human Genetics 2015, 23(12), 1735-1738.
- Gorman GS, Blakely EL, Hornig-Do HT, Tuppen HAL, Greaves LC, He LP, Baker A, Falkous G, Newman J, Trenell MI, Lecky B, Petty RK, Turnbull DM, McFarland R, Taylor RW. Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression. Clinical Science 2015, 128(12), 895-904.
- McCann BJ, Tuppen HAL, Kusters B, Lammens M, Smeitink JAM, Taylor RW, Rodenburg RJ, Wortmann SB. A novel mitochondrial DNA m.7507A > G mutation is only pathogenic at high levels of heteroplasmy. Neuromuscular Disorders 2015, 25(3), 262-267.
- Greggains GD, Lister LM, Tuppen HAL, Zhang Q, Needham LH, Prathalingam N, Hyslop LA, Craven L, Polanski Z, Murdoch AP, Turnbull DM, Herbert M. Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations. Scientific Reports 2014, 4, 3844.
- Perli E, Giordano C, Pisano A, Montanari A, Campese AF, Reyes A, Ghezzi D, Nasca A, Tuppen HA, Orlandi M, Di Micco P, Poser E, Taylor RW, Colotti G, Francisci S, Morea V, Frontali L, Zeviani M, d'Amati G. The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells. EMBO Molecular Medicine 2014, 6(2), 169-182.
- Hornig-Do H-T, Montanari A, Rozanska A, Tuppen HA, Almalki AA, Abg-Kamaludin DP, Frontali L, Francisci S, Lightowlers RN, Chrzanowska-Lightowlers ZM. Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations. EMBO Molecular Medicine 2014, 6(2), 183-193.
- Greaves LC, Nooteboom M, Elson JL, Tuppen HAL, Taylor GA, Commane DM, Arasaradnam RP, Khrapko K, Taylor RW, Kirkwood TBL, Mathers JC, Turnbull DM. Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing. PLoS Genetics 2014, 10(9), e1004620.
- Grady JP, Murphy JL, Blakely EL, Haller RG, Taylor RW, Turnbull DM, Tuppen HAL. Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle. PLoS One 2014, 9(12), e114462.
- Giordano C, Perli E, Orlandi M, Pisano A, Tuppen HA, He L, Ierino R, Petruzziello L, Terzi A, Autore C, Petrozza V, Gallo P, Taylor RW, d'Amati G. Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features. Human Pathology 2013, 44(7), 1262-1270.
- Tuppen HA, Naess K, Kennaway NG, Al-Dosary M, Lesko N, Yarham JW, Bruhn H, Wibom R, Nennesmo I, Weleber RG, Blakely EL, Taylor RW, McFarland R. Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy. European Journal of Human Genetics 2012, 20, 897-904.
- Perli E, Giordano C, Tuppen HAL, Montopoli M, Montanari A, Orlandi M, Pisano A, Catanzaro D, Caparrotta L, Musumeci B, Autore C, Morea V, Di Micco P, Campese AF, Leopizzi M, Gallo P, Francisci S, Frontali L, Taylor RW, d'Amati G. Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T > C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy. Human Molecular Genetics 2012, 21(1), 85-100.
- Kemp JP, Smith PM, Pyle A, Neeve VCM, Tuppen HAL, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmuller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Horvath R. Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain 2011, 134(1), 183-195.
- Tuppen HA, Hogan VE, He L, Blakely EL, Worgan L, Al-Dosary M, Saretzki G, Alston CL, Morris AA, Clarke M, Jones S, Devlin AM, Mansour S, Chrzanowska-Lightowlers ZMA, Thorburn DR, McFarland R, Taylor RW. The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. Brain 2010, 133(10), 2952-2963.
- Craven L, Tuppen HA, Greggains GD, Harbottle SJ, Murphy JL, Cree LM, Murdoch AP, Chinnery PF, Taylor RW, Lightowlers RN, Herbert M, Turnbull DM. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature 2010, 465(7294), 82-85.
- Tuppen HAL, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferrero I, He LP, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW. Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. Molecular Genetics and Metabolism 2010, 100(4), 345-348.
- Horvath R, Kemp JP, Tuppen HAL, Hudson G, Oldfors A, Marie SKN, Moslemi AR, Servidei S, Holme E, Shanske S, Kollberg G, Jayakar P, Pyle A, Marks HM, Holinski-Feder E, Scavina M, Walter MC, Coku J, Gunther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Hirano M, Lochmuller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain 2009, 132(11), 3165-3174.
- Rorbach J, Yusoff A, Tuppen H, Abg-Kamaludin D, Chrzanowska-Lightowlers Z, Taylor R, Turnbull D, Mcfarland R, Lightowlers R. Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation. Nucleic Acids Research 2008, 36(9), 3065-3074.
- Tuppen HAL, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale JE, Olpin SE, Treacy EP, McFarland R, Santorelli FM, Taylor RW. Further pitfalls in the diagnosis of mtDNA mutations: Homoplasmic mt-tRNA mutations. Journal of Medical Genetics 2008, 45(1), 55-61.
- McFarland R, Chinnery PF, Blakely EL, Schaefer AM, Morris AAM, Foster SM, Tuppen HAL, Ramesh V, Dorman PJ, Turnbull DM, Taylor RW. Homoplasmy, heteroplasmy, and mitochondrial dystonia. Neurology 2007, 69(9), 911-916.
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Book Chapter
- Tuppen HAL, Reeve AK, Vincent AE. Single Cell Analysis of Mitochondrial DNA Deletions. In: Mitochondrial DNA : Methods and Protocols. New York: Humana Press, Inc, 2023, pp.443-463.
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Conference Proceedings (inc. Abstracts)
- Williamson SC, Wilson L, Williamson GA, Greaves L, Tuppen H, Pickard R, Wright NA, Robson CN, Turnbull DM, Taylor RW, Heer R. Finding a niche. The location of human prostate stem cells. In: Annual Meeting of the Society-of-Academic-and-Research-Surgery. 2014, Univ Cambridge, Robinson Coll, Cambridge, ENGLAND: John Wiley & Sons Ltd.
- Tuppen HAL, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferreio I, He L, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW. Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. In: Neuromuscular Disorders: 15th International Congress of the World Muscle Society. 2010, Kumamoto, Japan: Elsevier Ltd.
- Horvath R, Kemp JP, Tuppen HAL, Hudson G, Pyle A, Holinski-Feder E, Abicht A, Czermin B, Walter MC, Gunther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Lochmuller H, Taylor RW, Chinnery PF. Infantile reversible COX deficiency myopathy caused by the m.14674T > C mutation in mt-tRNA(Glu) in a German family. In: United Kingdom Neuromuscular Translational Research Conference. 2010, Oxford, UK: Neuromuscular Disorders, Elsevier.
- Wright KP, Tuppen HAL, Blakely EL, McFarland R, Brown GK, Taylor RW, Morris AAM. The Biochemical and Molecular Genetic Aetiology of Leigh Syndrome. In: Molecular Genetics and Metabolism: 11th International Conference of Inborn Errors of Metabolism. 2009, San Diego, CA, USA: Academic Press.
- McFarland R, Tuppen H, He L, Blakely EL, Morris AAM, Clarke M, Jones S, Devlin AM, Taylor RW. Recurrent mutations in the NDUFS2 gene causing isolated complex I deficiency in skeletal muscle. In: Neuromuscular Disorders: 14th International Congress of the World Muscle Society. 2009, Geneva, Switzerland: Elsevier Ltd.
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Reviews
- Keogh MJ, Chinnery PF. Mitochondrial DNA mutations in neurodegeneration. Biochimica et Biophysica Acta (BBA) - Bioenergetics 2015, 1847(11), 1401-1411.
- Craven L, Elson JL, Irving L, Tuppen HA, Lister LM, Greggains GD, Byerley S, Murdoch AP, Herbert M, Turnbull D. Mitochondrial DNA disease: new options for prevention. Human Molecular Genetics 2011, 20(R2), R168-R174.
- Tuppen HAL, Blakely EL, Turnbull DM, Taylor RW. Mitochondrial DNA mutations and human disease. Biochimica et Biophysica Acta: Bioenergetics 2010, 1797(2), 113-128.