Russell OM, Gorman GS, Lightowlers RN, Turnbull DM. Mitochondrial diseases: Hope for the future. Cell. 2020;181:168–88.
Article CAS PubMed Google Scholar
Li D, Liang C, Zhang T, Marley JL, Zou W, Lian M, Ji D. Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype. Front Genet. 2022;13: 951185.
Article CAS PubMed PubMed Central Google Scholar
Ng YS, Lax NZ, Blain AP, Erskine D, Baker MR, Polvikoski T, Thomas RH, Morris CM, Lai M, Whittaker RG, Gebbels A, Winder A, Hall J, Feeney C, Farrugia ME, Hirst C, Roberts M, Lawthom C, Chrysostomou A, Murphy K, Baird T, Maddison P, Duncan C, Poulton J, Nesbitt V, Hanna MG, Pitceathly RDS, Taylor RW, Blakely EL, Schaefer AM, Turnbull DM, McFarland R, Gorman GS. Forecasting stroke-like episodes and outcomes in mitochondrial disease. Brain. 2022;145:542–54.
Martens AM, Gorter H, Wassink RG, Rietman H. Physical activity of children with a mitochondrial disease compared to children who are healthy. Pediatr Phys Ther. 2014;26:19–26.
Ohsawa Y, Hagiwara H, Nishimatsu SI, Hirakawa A, Kamimura N, Ohtsubo H, Fukai Y, Murakami T, Koga Y, Goto YI, Ohta S, Sunada Y; KN01 Study Group. Taurine supplementation for prevention of stroke-like episodes in MELAS: A multicentre, open-label, 52-week phase III trial. J Neurol Neurosurg Psychiatry. 2019;90:529–36.
Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol. 2015;77:753–9.
Article CAS PubMed PubMed Central Google Scholar
Edmonds JL, Kirse DJ, Kearns D, Deutsch R, Spruijt L, Naviaux RK. The otolaryngological manifestations of mitochondrial disease and the risk of neurodegeneration with infection. Arch Otolaryngol Head Neck Surg. 2002;128:355–62.
Wallace DC, Chalkia D. Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease. Cold Spring Harb Perspect Biol. 2013;5: a021220.
Article PubMed PubMed Central Google Scholar
Nissanka N, Moraes CT. Mitochondrial DNA heteroplasmy in disease and targeted nuclease-based therapeutic approaches. EMBO Rep. 2020;21: e49612.
Article CAS PubMed PubMed Central Google Scholar
Bakis H, Trimouille A, Vermorel A, Goizet C, Belaroussi Y, Schutz S, Solé G, Combe C, Martin-Negrier ML, Rigothier C. Renal involvement is frequent in adults with primary mitochondrial disorders: An observational study. Clin Kidney J. 2022;16:100–10.
Article PubMed PubMed Central Google Scholar
Imasawa T, Hirano D, Nozu K, Kitamura H, Hattori M, Sugiyama H, Sato H, Murayama K; J-SmiN Collaborators. Clinicopathologic features of mitochondrial nephropathy. Kidney Int Rep. 2022;7:580–90.
Thurlow JS, Joshi M, Yan G, Norris KC, Agodoa LY, Yuan CM, Nee R. Global epidemiology of end-stage kidney disease and disparities in kidney replacement therapy. Am J Nephrol. 2021;52:98–107.
Kobayashi A, Goto Y, Nagata M, Yamaguchi Y. Granular swollen epithelial cells: a histologic and diagnostic marker for mitochondrial nephropathy. Am J Surg Pathol. 2010;34:262–70.
Ochiai S, Inagaki H, Hisanaga S, Tanaka H, Kikuchi M, Fujimoto S. A patient with mitochondrial disease on dialysis with long-term follow-up of cardiomyopathy: An autopsy case report. Intern Med. 2023;62:2859–63.
Article PubMed PubMed Central Google Scholar
Maassen JA, T Hart LM, Van Essen E, Heine RJ, Nijpels G, Jahangir Tafrechi RS, Raap AK, Janssen GM, Lemkes HH. Mitochondrial diabetes: Molecular mechanisms and clinical presentation. Diabetes. 2004;53 Suppl 1:S103–9.
Imasawa T, Kitamura H, Kawaguchi T, Yatsuka Y, Okazaki Y, Murayama K. Changes in histopathology and heteroplasmy rates over 8 years and effectiveness of taurine supplementation in a patient with mitochondrial nephropathy caused by MT-TL1 mutation: A case report. Heliyon. 2023;9: e14923.
Article PubMed PubMed Central Google Scholar
Craig CL, Marshall AL, Sjöström M, Bauman AE, Booth ML, Ainsworth BE, Pratt M, Ekelund U, Yngve A, Sallis JF, Oja P. International physical activity questionnaire: 12-country reliability and validity. Med Sci Sports Exerc. 2003;35:1381–95.
Zhang M, Izumi I, Kagamimori S, Sokejima S, Yamagami T, Liu Z, Qi B. Role of taurine supplementation to prevent exercise-induced oxidative stress in healthy young men. Amino Acids. 2004;26:203–7.
Article CAS PubMed Google Scholar
Rikimaru M, Ohsawa Y, Wolf AM, Nishimaki K, Ichimiya H, Kamimura N, Nishimatsu S, Ohta S, Sunada Y. Taurine ameliorates impaired the mitochondrial function and prevents stroke-like episodes in patients with MELAS. Intern Med. 2012;51:3351–7.
Beyranvand MR, Khalafi MK, Roshan VD, Choobineh S, Parsa SA, Piranfar MA. Effect of taurine supplementation on exercise capacity of patients with heart failure. J Cardiol. 2011;57:333–7.
Jung BC, Laidlaw SA, Kopple JD. Taurine levels in plasma and blood cells in patients undergoing routine maintenance hemodialysis. Am J Kidney Dis. 1991;18:74–9.
Article CAS PubMed Google Scholar
Suliman ME, Bárány P, Filho JCD, Lindholm B, Bergström J. Accumulation of taurine in patients with renal failure. Nephrol Dial Transplant. 2002;17:528–9.
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