Newcastle University

Research Interests

mtDNA variation in human disease.

• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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, 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• Yarham JW, Elson JL, Blakely EL, McFarland R, Taylor RW. Mitochondrial tRNA mutations and disease. Wiley Interdisciplinary Reviews: RNA 2010, 1(2), 304-324.
• 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.
• 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.
• 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.
• 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.
• 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.