Staff Profile

Education

B.Sc. Hons in Genetics (2:1), University College London, 1995-1998

PhD in Mitochondrial Genetics, Newcastle University, 1998-2002

Employment

Lecturer in Mitochondrial Genetics, Newcastle University, 2011-Present

RCUK Academic Fellow, Newcastle University, 2006-2011

Research Associate, Newcastle University, 2005-2006

MRC Bioinformatics Training Fellow, Newcastle University, 2002-2005

Organization membership and editorial roles

Honorary professor at North-West University, Potchefstroom, South Africa

Honorary post at the Statens Serum Institut, Copenhagen, Denmark

Member of UK Chronic fatigue syndrome/Myalgic encephalomyelitis (CFS/ME), Research Collaborative Executive Board

African Society of Human Genetics and European Society of Human Genetics  

Editor: BMC Medical Genetics, Scientific Reports and PLoS One

Research: (ORCID ID: 0000-0002-3551-5624) Joanna has an H-index of 41 and has published >90 peer-reviewed papers. She previously held an MRC Bioinformatics training fellowship before winning a five-year RCUK fellowship. She has published seminal articles examining the evolutionary principles underpinning the pattern of mtDNA variation seen in modern human populations, with 10 of these papers cited over 100 times. She has also devised novel models to link mtDNA variation to multi-factorial traits. She is, and has been for the last ten year an extraordinary (Honorary) professor at the North-West University (NWU) in South Africa. She has received funding from the Royal Society to host an inaugural meeting at NWU to bring together world-leading experts in mtDNA variation and disease, including monogenic and common diseases looking at less studied populations.

PhD in Mitochondrial Genetics, Newcastle University, 1998-2002: During my PhD, I was the first to publish evidence of purifying selection in different global regions. This work substantially contributed to the debate on the relative importance of ‘drift’ and ‘selection’ in shaping the mtDNA variation seen in human populations. I also published work on the clonal expansion of mtDNA point mutations, showing for the first time that intra-cellular random genetic could account for mitochondrial dysfunction associated with the ageing process.

I am module lead for the following modules: From DNA to Disease (UG- BGM2057), Mitochondrial Biology (PG - MMB8034) and Clinical Research Dissertation (PG - MCR8007-MCR8025). I am currently a senior tutor on the MRes program with ~250 students.

I act as module moderator for the marking following modules: Genetics of Common Disease (PG- MMB8014) and Designing a Research Proposal (PG - MCR8013)

Also teaching on Evolution - (UG - BGM2058), Diagnostic Medical Genetics - (UG - BGM3060), Research Projects - (UG - CMB3000/CMB3004), Genetics of Common Diseases - (PG - MMB8014) and Biology of Ageing - (PG - MMB8011)

I am an experienced project supervisor, having supervised many BSc and MSc students in various programs over the last 15 years. The following are publications in the previous 5 years featuring some of my BSc and MSc students.

Mitochondrial DNA population variation is not associated with Alzheimer's in the Japanese population: A consistent finding across global populations. Wong J (MSc), Steyn JS, Pienaar IS, Elson JL. PLoS One. 2022 Oct. 

A broad comparative genomics approach to understanding the pathogenicity of Complex I mutations. Klink GV, O'Keefe H (MSc), Gogna A (BSc), Bazykin GA, Elson JL. Sci Rep. 2021 Oct.

Investigation of the correlation between mildly deleterious mtDNA Variations and the clinical progression of multiple sclerosis. Pienaar IS, Mohammed R, Courtley R (BSc), Gledson MR (MSc), Reynolds R, Nicholas R, Elson JL. Mult Scler Relat Disord. 2021 Aug.

What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations? O'Keefe H (MSc), Queen R (MSc), Lord P, Elson JL. Evol Appl. 2019 Aug.

Mitochondrial DNA copy number is not associated with fatigue status in Primary Sjögren’s Syndrome

Eliane C Soares De Menezes (BSc), Audrey E Brown, Simon J Bowman, Kamran Mirza, Julia L Newton, Wan-Fai Ng &Joanna L Elson

Haplogroup Context is Less Important in the Penetrance of Mitochondrial DNA Complex I Mutations Compared to mt-tRNA Mutations. O'Keefe H (BSc), Queen RA (MSc), Meldau S, Lord P, Elson JL. J Mol Evol. 2018.

Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications. Queen RA (MSc), Steyn JS, Lord P, Elson JL. PLoS One. 2017 Nov

Mitochondrial DNA changes in pedunculopontine cholinergic neurons in Parkinson's disease. Bury AG (MRes), Pyle A, Elson JL, Greaves L, Morris CM, Hudson G, Pienaar IS. Ann Neurol. 2017 Dec

PhD students supervised to completion.

• John Yarham (2009 - 2012): Mitochondrial tRNA mutations and disease
• Marianne Pretorius (2013 - 2017): Investigation of the involvement of mitochondrial DNA variants in cardiometabolic disease: the SABPA study  
• Cara Thoms (2014 - 2018): The assessment of cellular bioenergetics in chronic fatigue syndrome
• Carla Bayern (2015 - 2019): Does antiretroviral therapy accelerate the speed of physiological ageing through the clonal expansion of mtDNA mutations?
• Sarah Nesbitt (2016 - 2020): Investigating genetic risk factors and disease mechanisms in Leber hereditary optic neuropathy.
• Amelia Lu (2020- current): Mitochondrial DNA changes in pedunculopontine cholinergic neurons in Parkinson's disease

Please see the main publication list for papers featuring PhD students.

• Articles

  • Volpe KE, Samuels DC, Elson JL, Steyn JS, Gebretsadik T, Ellis RJ, Heaton RK, Kallianpur AR, Letendre S, Hulgan T. Mitochondrial DNA mutation pathogenicity score and neurocognitive performance in persons with HIV. Mitochondrion 2024, 74, 101820.
  • Fouche B, Turner S, Gorham R, Stephenson EJ, Gutbier S, Elson JL, Garcia-Beltran O, Van Der Westhuizen FH, Pienaar IS. A Novel Mitochondria-Targeting Iron Chelator Neuroprotects Multimodally via HIF-1 Modulation Against a Mitochondrial Toxin in a Dopaminergic Cell Model of Parkinson’s Disease. Molecular Neurobiology 2023, 60, 749-767.
  • Muller-Nedebock AC, Pfaff AL, Pienaar IS, Koks S, van der Westhuizen FH, Elson JL, Bardien S. Mitochondrial DNA variation in Parkinson’s disease: Analysis of “out-of-place” population variants as a risk factor. Frontiers in Aging Neuroscience 2022, 14, 921412.
  • Wong J, Steyn JS, Pienaar IS, Elson JL. Mitochondrial DNA population variation is not associated with Alzheimer's in the Japanese population: A consistent finding across global populations. PLoS ONE 2022, 17(10), e0276169.
  • Latar NM, Mahkamova K, Elson J, Karnik I, Sutherland R, Aspinall S, Meeson A. Impact of transforming growth factor beta 1 on normal and thyroid cancer side population cells. Endocrine 2022, 76, 359-368.
  • Pienaar IS, Mohammed R, Courtley R, Gledson MR, Reynolds R, Nicholas R, Elson JL. Investigation of the Correlation Between Mildly Deleterious mtDNA Variations and the Clinical Progression of Multiple Sclerosis. Multiple Sclerosis and Related Disorders 2021, 103055.
  • Klink GV, O'Keefe H, Gogna A, Bazykin GA, Elson JL. A broad comparative genomics approach to understanding the pathogenicity of Complex I mutations. Scientific Reports 2021, 11, 19578.
  • O'Keefe H, Queen R, Lord P, Elson JL. What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?. Evolutionary Applications 2020, 12(10), 1912-1930.
  • Tomas C, Elson JL, Strassheim V, Newton JL, Walker M. The effect of myalgic encephalomyelitis/ chronic fatigue syndrome (ME/CFS) severity on cellular bioenergetic function. PLoS ONE 2020, 15(4), e0231136.
  • Tomas C, Elson JL, Newton JL, Walker M. Substrate utilisation of cultured skeletal muscle cells in patients with CFS. Scientific Reports 2020, 10(1), 18232.
  • Lewis FW, Fairooz S, Elson JL, Hubscher-Bruder V, Brandel J, Soundararajan M, Smith D, Dexter DT, Tétard D, Pienaar IS. Novel 1-hydroxypyridin-2-one metal chelators prevent and rescue ubiquitin proteasomal-related neuronal injury in an in vitro model of Parkinson’s disease. Archives of Toxicology 2020, 94, 813-831.
  • Haumann S, Boix J, Knuever J, Bieling A, Sanjurjo AV, Elson JL, Blakely EL, Taylor RW, Riet N, Abken H, Kashkar H, Hornig-Do HT, Wiesner RJ. Mitochondrial DNA mutations induce mitochondrial biogenesis and increase the tumorigenic potential of Hodgkin and Reed–Sternberg cells. Carcinogenesis 2020, 41(12), 1735-1745.
  • Hagen CM, Elson JL, Aidt HF, Havndrup O, Jensen MK, Kanters JK, Atherton JJ, McGaughran J, Bundgaard J, Christiansen M. Evolutionary dissection of mtDNA hgH - a susceptibility factor for hypertrophic cardiomyopathy. Mitochondrial DNA Part A 2020, 31(6), 238-244.
  • Puneet SK, Wells L, Rizzo G, Elson JL, Passchier J, Rabiner EA, Gunn RN, Dexter DT, Pienaar IS. DREADD Activation of Pedunculopontine Cholinergic Neurons Reverses Motor Deficits and Restores Striatal Dopamine Signaling in Parkinsonian Rats. Neurotherapeutics 2020, 17, 1120-1141.
  • Gutbier S, Kyriakou S, Schildknecht s, Uckert AK, Brüll k, Lewis F, Dickens D, Pearson L, Elson JL, Michel S, Hubscher-Bruder V, Brandel J, Tetard T, Leist M, Pienaar IS. Design and evaluation of bi-functional iron chelators for protection of dopaminergic neurons from toxicants. Archives of Toxicology 2020, 94, 3105-3123.
  • Tomas C, Elson JL. The role of mitochondria in ME/CFS: a perspective. Fatigue: Biomedicine, Health and Behavior 2019, 7(1), 52-58.
  • Schoonen M, Smuts I, Louw R, Elson JL, van Dyk E, Jonck L-M, Rodenburg RJT, van der Westhuizen FH. Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease. Journal of Molecular Diagnostics 2019, 21(3), 503-513.
  • Piotrowska-Nowak A, Elson JL, Sobczyk-Kopciol A, Piwonska A, Puch-Walczak A, Drygas W, Ploski R, Bartnik E, Tonska K. New mtDNA association model, MutPred variant load, suggests individuals with multiple mildly deleterious mtDNA variants are more likely to suffer from atherosclerosis. Frontiers in Genetics 2019, 9, 702.
  • Venter M, Tomas C, Pienaar IS, Strassheim V, Erasmus E, Ng W-F, Howell N, Newton JL, Van der Westhuizen FH, Elson JL. MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants. Scientific Reports 2019, 9(1), 2914.
  • Tomas C, Brown AE, Newton JL, Elson JL. Mitochondrial complex activity in permeabilised cells of chronic fatigue syndrome patients using two cell types. PeerJ 2019, 7, e6500.
  • Venter M, Malan L, Elson JL, van der Westhuizen FH. Implementing a new variant load model to investigate the role of mtDNA in oxidative stress and inflammation in a bi-ethnic cohort: the SABPA study. Mitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis 2019, 30(3), 440-447.
  • Tomas C, Lodge TA, Potter M, Elson JL, Newton JL, Morten KJ. Assessing cellular energy dysfunction in CFS/ME using a commercially available laboratory test. Scientific Reports 2019, 9(1), 11464.
  • Mantanona CP, Alsio J, Elson JL, Fisher BM, Dalley JW, Bussey T, Pienaar IS. Altered motor, anxiety-related and attentional task performance at baseline associate with multiple gene copies of the vesicular acetylcholine transporter and related protein overexpression in ChAT::Cre+ rats. Brain Structure and Function 2019, 224(9), 3095–3116.
  • Xu J, Potter M, Tomas C, Elson JL, Morten KJ, Poulton J, Wang N, Jin H, Hou Z, Huang WE. A new approach to find biomarkers in chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) by single-cell Raman micro-spectroscopy. Analyst 2019, 144(3), 913-920.
  • Elson JL, Kochaj R, Reynolds R, Pienaar IS. Temporal-Spatial Profiling of Pedunculopontine Galanin-Cholinergic Neurons in the Lactacystin Rat Model of Parkinson’s Disease. Neurotoxicity Research 2018, 34(1), 16-31.
  • O'Keefe H, Queen RA, Meldau S, Lord P, Elson JL. Haplogroup Context is Less Important in the Penetrance of Mitochondrial DNA Complex I Mutations Compared to mt-tRNA Mutations. Journal of Molecular Evolution 2018, 86(6), 395-403.
  • Venter M, Malan L, van Dyk E, Elson JL, van der Westhuizen FH. Using MutPred derived mtDNA load scores to evaluate mtDNA variation in hypertension and diabetes in a two-population cohort: The SABPA study. Journal of Genetics and Genomics 2017, 44(3), 139-149.
  • Pienaar IS, Howell N, Elson JL. MutPred mutational load analysis shows mildly deleterious mitochondrial DNA variants are not more prevalent in Alzheimer's patients, but may be under-represented in healthy older individuals. Mitochondrion 2017, 34, 141-146.
  • Queen RA, Steyn JS, Lord P, Elson JL. Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications. PLOS ONE 2017, 12(11), e0187862.
  • Bury AG, Pyle A, Elson JL, Greaves L, Morris CM, Hudson G, Pienaar IS. Mitochondrial DNA changes in pedunculopontine cholinergic neurons in Parkinson disease. Annals of Neurology 2017, 82(6), 1016-1021.
  • Pienaar IS, Howell N, Elson JL. Mildly deleterious mitochondrial DNA variants are less frequent in healthy older individuals, but not more prevalent in Alzheimer’s patients. Mitochondrion 2017, 34, 141-146.
  • Schoeman EM, Van Der Westhuizen FH, Erasmus E, van Dyk E, Knowles CVY, Al-Ali S, Ng W-F, Taylor RW, Newton JL, Elson JL. Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome. BMC Medical Genetics 2017, 18, 29.
  • Tomas C, Brown A, Strassheim V, Elson J, Newton J, Manning P. Cellular bioenergetics is impaired in patients with chronic fatigue syndrome. PLoS ONE 2017, 12(10), e0186802.
  • Elson JL, Yates A, Pienaar IS. Pedunculopontine cell loss and protein aggregation direct microglia activation in parkinsonian rats. Brain Structure and Function 2016, 221(4), 2319-2341.
  • van der Westhuizen FH, Sinxadi PZ, Dandara C, Smuts I, Riordan G, Meldau S, Malik AN, Sweeney MG, Tsai Y, Towers GW, Louw R, Gorman GS, Payne BA, Soodyall H, Pepper MS, Elson JL. Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop. Human Mutation 2015, 36(5), 569-571.
  • Elson JL, Smith PM, Greaves LC, Lightowlers RN, Chrzanowska-Lightowlers ZMA, Taylor RW, Vila-Sanjurjo A. The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease. Mitochondrion 2015, 25, 17-27.
  • Pienaar IS, Gartside SE, Sharma P, DePaola V, Gretenkord S, Withers D, Elson JL, Dexter DT. Pharmacogenetic stimulation of cholinergic pedunculopontine neurons reverses motor deficits in a rat model of Parkinson's disease. Molecular Neurodegeneration 2015, 10, 47.
  • Gorman GS, Elson JL, Newman J, Payne B, McFarland R, Newton JL, Turnbull DM. Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease. Neuromuscular Disorders 2015, 25(7), 563-566.
  • Elson JL, Smith PM, Vila-Sanjurjo A. Heterologous Inferential Analysis (HIA) as a Method to Understand the Role of Mitochondrial rRNA Mutations in Pathogenesis. Methods in Molecular Biology 2015, 1264, 369-383.
  • Pienaar IS, Lee CH, Elson JL, McGuinness L, Gentleman SM, Kalaria RN, Dexter DT. Deep-brain stimulation associates with improved microvascular integrity in the subthalamic nucleus in Parkinson's disease. Neurobiology of Disease 2015, 74, 392–405.
  • Pienaar IS, Harrison IF, Elson JL, Bury A, Woll P, Simon AK, Dexter DT. An animal model mimicking pedunculopontine nucleus cholinergic degeneration in Parkinson's disease. Brain Structure and Function 2015, 220(1), 479-500.
  • 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.
  • Smith PM, Elson JL, Greaves LC, Wortmann SB, Rodenburg RJT, Lightowlers RN, Chrzanowska-Lightowlers ZMA, Taylor RW, Vila-Sanjurjo A. The role of the mitochondrial ribosome in human disease: Searching for mutations in 12S mitochondrial rRNA with high disruptive potential. Human Molecular Genetics 2013, 23(4), 949-969.
  • Pienaar I-S, Elson JL, Racca C, Nelson G, Turnbull DM, Morris CM. Mitochondrial Abnormality Associates with Type-Specific Neuronal Loss and Cell Morphology Changes in the Pedunculopontine Nucleus in Parkinson Disease. American Journal of Pathology 2013, 183(6), 1826-1840.
  • Elson JL, Cadogan M, Apabhai S, Whittaker RG, Phillips A, Trennell MI, Horvath R, Taylor RW, McFarland R, McColl E, Turnbull DM, Gorman GS. Initial development and validation of a mitochondrial disease quality of life scale. Neuromuscular Disorders 2013, 23(4), 324-329.
  • Hudson G, Wilson I, Payne BI, Elson J, Samuels DC, Santibanez-Korev M, Hall SJ, Chinnery PF. Unique mitochondrial DNA in highly inbred feral cattle. Mitochondrion 2012, 12(4), 438-440.
  • Elson JL, Sweeney MG, Procaccio P, Yarham JW, Salas A, Kong QP, van der Westhuizen FH, Pitceathly RDS, Thorburn DR, Lott MT, Wallace DC, Taylor RW, McFarland R. Towards a mtDNA locus-specific mutation database using the LOVD platform. Human Mutation 2012, 33(9), 1352-1358.
  • Reeve AK, Park TK, Jaros E, Campbell GR, Lax NZ, Hepplewhite PD, Krishnan KJ, Elson JL, Morris CM, McKeith IG, Turnbull DM. Relationship Between Mitochondria and α-Synuclein: A Study of Single Substantia Nigra Neurons. Archives of Neurology 2012, 69(3), 385-393.
  • Elson JL, Howell C, Howell N. Failure of a Molecular Clock Model for Sequence Evolution in Superhaplogroup HV mtDNAs. Ramifications for Age Estimation. Molecular Biology and Evolution 2012. In Preparation.
  • Greaves LC, Elson JL, Nooteboom M, Grady JP, Taylor GA, Taylor RW, Mathers JC, Kirkwood TBL, Turnbull DM. Comparison of Mitochondrial Mutation Spectra in Ageing Human Colonic Epithelium and Disease: Absence of Evidence for Purifying Selection in Somatic Mitochondrial DNA Point Mutations. PLoS Genetics 2012, 8(11), e1003082.
  • van der Walt EM, Smuts I, Taylor RW, Elson JL, Turnbull DM, Louw R, van der Westhuizen FH. Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease. European Journal of Human Genetics 2012, 20, 650-656.
  • Proctor CJ, Pienaar IS, Elson JL, Kirkwood TBL. Aggregation, impaired degradation and immunization targeting of amyloid-beta dimers in Alzheimer's disease: A stochastic modelling approach. Molecular Neurodegeneration 2012, 7(1), 32.
  • Yarham JW, McFarland R, Taylor RW, Elson JL. A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations. Mitochondrion 2012, 12(5), 533-538.
  • Achouitar S, Mohamed M, Gardeitchik T, Wortmann SB, Sykut-Cegielska J, Ensenauer R, de Baulny HO, Ounap K, Martinelli D, de Vries M, McFarland R, Kouwenberg D, Theodore M, Wijburg F, Grunewald S, Jaeken J, Wevers RA, Nijtmans L, Elson J, Morava E. Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression. Journal of Inherited Metabolic Disease 2011, 34(4), 923-927.
  • Apabhai S, Gorman GS, Sutton L, Elson JL, Ploetz T, Turnbull DM, Trenell MI. Habitual Physical Activity in Mitochondrial Disease. PLoS One 2011, 6(7), e22294.
  • Haworth A, Bertram L, Carrera P, Elson JL, Braastad CD, Cox DW, Cruts M, denDunnen JT, Farrer MJ, Fink JK, Hamed SA, Houlden H, Johnson DR, Nuytemans K, Palau F, Rayan DL, Robinson PN, Salas A, Schüle B, Sweeney MG, Woods MO, Amigo J, Cotton RG, Sobrido MJ. Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics 2011, 12(3), 169-173.
  • Yarham JW, Al-Dosary M, Blakely EL, Alston CL, Taylor RW, Elson JL, McFarland R. A Comparative Analysis Approach to Determining the Pathogenicity of Mitochondrial tRNA Mutations. Human Mutation 2011, 32(11), 1319-1325.
  • Elson JL, Apabhai S, Gorman G, Whittaker RG, Krishnan KJ. Older mothers are not at risk of having grandchildren with sporadic mtDNA deletions. Genetics in Medicine 2010, 12(5), 313-314.
  • Reeve AK, Krishnan KJ, Taylor G, Elson JL, Bender A, Taylor RW, Morris CM, Turnbull DM. The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons. Aging Cell 2009, 8(4), 496-498.
  • Elson JL, Swalwell H, Blakely EL, McFarland R, Taylor RW, Turnbull DM. Pathogenic mitochondrial tRNA mutations - which mutations are inherited and why?. Human Mutation 2009, 30(11), E984-E992.
  • Stewart J, Freyer C, Elson J, Wredenberg A, Cansu Z, Trifunovic A, Larsson N. Strong purifying selection in transmission of mammalian mitochondrial DNA. PLoS Biology 2008, 6(1), e10.
  • Reeve AK, Krishnan KJ, Elson JL, Morris CM, Bender A, Lightowlers RN, Turnbull DM. Nature of Mitochondrial DNA Deletions in Substantia Nigra Neurons. American Journal of Human Genetics 2008, 82(1), 228-235.
  • Elstner M, Schmidt C, Zingler VC, Prokisch H, Bettecken T, Elson JL, Rudolph G, Bender A, Halmagyi GM, Brandt T, Strupp M, Klopstock T. Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy. Biochemical and Biophysical Research Communications 2008, 377(2), 379-383.
  • Ban M, Elson J, Walton A, Turnbull D, Compston A, Chinnery P, Sawcer S. Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility. PLoS One 2008, 3(8), e2891.
  • Elson JL, Turnbull DM, Taylor RW. Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach. Biochemical Journal 2007, 404(2), e3-5.
  • Howell N, Elson JL, Howell C, Turnbull DM. Relative rates of evolution in the coding and control regions of African mtDNAs. Molecular Biology and Evolution 2007, 24(10), 2213-2221.
  • Chinnery PF, Mowbray C, Patel SK, Elson JL, Sampson M, Hitman GA, McCarthy MI, Hattersley AT, Walker M. Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls. Journal of Medical Genetics 2007, 44(6), e80.
  • 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.
  • Mitchell AL, Elson JL, Howell N, Taylor RW, Turnbull DM. Sequence variation in mitochondrial complex I genes: Mutation or polymorphism?. Journal of Medical Genetics 2006, 43(2), 175-179.
  • Elson JL, Lightowlers RN. Mitochondrial DNA clonality in the dock: can surveillance swing the case?. Trends in Genetics 2006, 22(11), 603-607.
  • Schaefer AM, Phoenix C, Elson JL, McFarland R, Chinnery PF, Turnbull DM. Mitochondrial disease in adults: A scale to monitor progression and treatment. Neurology 2006, 66(12), 1932-1934.
  • Elson JL, Herrnstadt C, Preston G, Thal L, Morris CM, Edwardson JA, Beal MF, Turnbull DM, Howell N. Does the mitochondrial genome play a role in the etiology of Alzheimer's disease?. Human Genetics 2006, 119(3), 241-254.
  • Phoenix C, Schaefer AM, Elson JL, Morava E, Bugiani M, Uziel G, Smeitink JA, Turnbull DM, McFarland R. A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscular Disorders 2006, 16(12), 814-820.
  • Baudouin S, Saunders D, Tiangyou W, Elson J, Poynter J, Pyle A, Keers S, Turnbull D, Howell N, Chinnery P. Mitochondrial DNA and survival after sepsis: A prospective study. Lancet 2005, 366(9503), 2118-2121.
  • Elson JL, Turnbull DM, Howell N. Comparative Genomics and the Evolution of Human Mitochondrial DNA: Assessing the Effects of Selection. American Journal of Human Genetics 2004, 74(2), 229-238.
  • McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM. Assigning pathogenicity to mitochondrial tRNA mutations: when 'definitely maybe' is not good enough. Trends in Genetics 2004, 20(12), 591-596.
  • Howell N, Elson JL, Turnbull DM, Herrnstadt C. African haplogroup L mtDNA sequences show violations of clock-like evolution. Molecular Biology and Evolution 2004, 21(10), 1843-1854.
  • Elson JL, Samuels DC, Johnson MA, Turnbull DM, Chinnery PF. The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy. Neuromuscular Disorders 2002, 12(9), 858-864.
  • Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N. Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. American Journal of Human Genetics 2002, 70(5), 1152-1171.
  • Chinnery PF, Samuels DC, Elson J, Turnbull DM. Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: Is there a common mechanism?. Lancet 2002, 360(9342), 1323-1325.
  • Elson JL, Samuels DC, Turnbull DM, Chinnery PF. Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age. American Journal of Human Genetics 2001, 68(3), 802-806.
  • Elson JL, Andrews RM, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Analysis of European mtDNAs for recombination. American Journal of Human Genetics 2001, 68(1), 145-153.

• Book Chapters

  • Bailey LJ, Elson JL, Pienaar IS. Single-Cell Approaches for Studying the Role of Mitochondrial DNA in Neurodegenerative Disease. In: Methods in Molecular Biology. Humana, New York: Humana Press Inc, 2021, pp.299-329.
  • Vila-Sanjurjo A, Smith PM, Elson JL. Heterologous Inferential Analysis (HIA) and Other Emerging Concepts: In Understanding Mitochondrial Variation In Pathogenesis: There is no More Low-Hanging Fruit. In: Methods in Molecular Biology. Humana Press Inc, 2021, pp.203-245.

• Conference Proceedings (inc. Abstracts)

  • Yarham JW, Elson JL, Taylor RW, McFarland R. A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
  • Yarham J, Elson JL, Blakely EL, Alston CL, Turnbull DM, McFarland R, Taylor RW. Assigning pathogenicity to mitochondrial tRNA gene mutations. In: Journal of Medical Genetics: British Human Genetics Conference. 2010, Warwick, UK: BMJ Group.

• Editorials

  • Meldau S, Riordan G, van der Westhuizen F, Elson JL, Smuts I, Pepper MS, Soodyall H. Could we offer mitochondrial donation or similar assisted reproductive technology to South African patients with mitochondrial DNA disease?. SAMJ South African Medical Journal 2016, 106(3), 234-236.
  • Whittaker RG, Blackwood JK, Alston CL, Blakely EL, Elson JL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. Urine Heteroplasmy is the Best Predictor of Clinical Outcome in the m.3243A>G mtDNA Mutation. Neurology 2009, 72(6), 568-569.

• Letters

  • Salas A, Elson JL. Mitochondrial DNA as a Risk Factor for False Positives in Case-Control Association Studies. Journal of Genetics and Genomics 2015, 42(4), 169-172.
  • Salas A, Elson JL. Raising Doubts about the Pathogenicity of Mitochondrial DNA Mutation m.3308T>C in Left Ventricular Hypertraveculation/Noncompaction. Cardiology 2012, 122(2), 113-115.
  • Hudson G, Mowbray C, Elson J, Jacob A, Boggild M, Torroni A, Chinnery PF. Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)?. Brain 2008, 131(4), e93.
  • Chinnery PF, Mowbray C, Elliott H, Elson JL, Nixon H, Hartley J, Shaw PJ. Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis. Neurogenetics 2007, 8(1), 65-67.
  • Elson JL, Majamaa K, Howell N, Chinnery PF. Associating mitochondrial DNA variation with complex traits. American Journal of Human Genetics 2007, 80(2), 378-382.
  • McFarland R, Taylor RW, Elson JL, Lightowlers RN, Turnbull DM, Howell N, Scaglia F, Vogel H, Hawkins EP, Vladutiu GD, Guan M-X, Liu L-L, Wong L-JC. Proving pathogenicity: When evolution is not enough. American Journal of Medical Genetics 2004, 131(1), 107-110.

• Note

  • Howell N, Howell C, Elson JL. Molecular clock debate: Time dependency of molecular rate estimates for mtDNA: This is not the time for wishful thinking. Heredity 2008, 101(2), 107-108.

• Reviews

  • Vila-Sanjurjo A, Mallo N, Atkins JF, Elson JL, Smith PM. Our current understanding of the toxicity of altered mito-ribosomal fidelity during mitochondrial protein synthesis: What can it tell us about human disease?. Frontiers in Physiology 2023, 14, 1082953.
  • Karnik I, Sutherland R, Elson J, Aspinall S, Meeson A. TGF-β, to target or not to target; to prevent thyroid cancer progression?. Biochimica et Biophysica Acta - Reviews on Cancer 2022, 1877(4), 188752.
  • Muller-Nedebock AC, Brennan RR, Venter M, Pienaar IS, van der Westhuizen FH, Elson JL, Ross OA, Bardien S. The unresolved role of mitochondrial DNA in Parkinson's disease: An overview of published studies, their limitations, and future prospects. Neurochemistry International 2019, 129, 104495.
  • Venter M, van der Westhuizen FH, Elson JL. The aetiology of cardiovascular disease: A role for mitochondrial DNA?. Cardiovascular Journal of Africa 2018, 29(2), 122-132.
  • 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.
  • Yarham JW, Elson JL, Blakely EL, McFarland R, Taylor RW. Mitochondrial tRNA mutations and disease. Wiley Interdisciplinary Reviews: RNA 2010, 1(2), 304-324.
  • Stewart JB, Freyer C, Elson JL, Larsson N-G. Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease. Nature Reviews Genetics 2008, 9(9), 657-662.
  • Howell N, Elson JL, Chinnery PF, Turnbull DM. mtDNA mutations and common neurodegenerative disorders. Trends in Genetics 2005, 21(11), 583-586.