Renal function and mitochondrial cytopathy (MC): More questions than answers?

QJM: An International Journal of Medicine

Volumn 101, Issue 10, 2008, Pages 755-766

  Hall, Andrew M ^a   Unwin, R J ^a   Hanna, M G ^a   Duchen, M R ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ANTIOXIDANT; ANTIRETROVIRUS AGENT; CREATINE KINASE; LACTIC ACID DERIVATIVE; LACTIC ACID PYRUVIC ACID; MITOCHONDRIAL DNA; UBIQUINONE; UNCLASSIFIED DRUG;

ADULT; AGE; AGE DISTRIBUTION; APOPTOSIS; CALCIUM HOMEOSTASIS; CHILD; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXTRACHROMOSOMAL INHERITANCE; FANCONI RENOTUBULAR SYNDROME; FOCAL GLOMERULOSCLEROSIS; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; INTERSTITIAL NEPHRITIS; KEARNS SAYRE SYNDROME; KIDNEY DISEASE; KIDNEY TUBULE ACIDOSIS; LACTATE BLOOD LEVEL; MELAS SYNDROME; MITOCHONDRIAL MEMBRANE POTENTIAL; MITOCHONDRIAL TOXICITY; NEPHROTIC SYNDROME; OXIDATIVE STRESS; PATHOGENESIS; PEARSON SYNDROME; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION;

EID: 53149104749     PISSN: 14602725     EISSN: 14602393     Source Type: Journal    
DOI: 10.1093/qjmed/hcn060     Document Type: Review

References (87)

1. Dyall SD, Brown MT, Johnson PJ. Ancient invasions: From endosymbionts to organelles. Science 2004; 304:253-7.
2. Duchen MR. Mitochondria in health and disease: Perspectives on a new mitochondrial biology. Mol Aspects Med 2004; 25:365-451.
3. Wiederkehr A, Wollheim CB. Minireview: Implication of mitochondria in insulin secretion and action. Endocrinology 2006; 147:2643-9.
4. Singer M, De SV, Vitale D, Jeffcoate W. Multiorgan failure is an adaptive, endocrine-mediated, metabolic response to overwhelming systemic inflammation. Lancet 2004; 364:545-8.
5. Mandemakers W, Morais VA, De SB. A cell biological perspective on mitochondrial dysfunction in Parkinson disease and other neurodegenerative diseases. J Cell Sci 2007; 120 (Pt 10) 1707-16.
6. Brown WM, George M Jr, Wilson AC. Rapid evolution of animal mitochondrial DNA. Proc Natl Acad Sci USA 1979; 76:1967-71.
7. Niaudet P. Mitochondrial disorders and the kidney. Arch Dis Child 1998; 78:387-90.
8. Rotig A. Renal disease and mitochondrial genetics. J Nephrol 2003; 16:286-92.
9. Niaudet P, Rotig A. The kidney in mitochondrial cytopathies. Kidney Int 1997; 51:1000-7.
10. Neiberger RE, George JC, Perkins LA, Theriaque DW, Hutson AD, Stacpoole PW. Renal manifestations of congenital lactic acidosis. Am J Kidney Dis 2002; 39:12-23.
11. Martin-Hernandez E, Garcia-Silva MT, Vara J, Campos Y, Cabello A, Muley R, et al. Renal pathology in children with mitochondrial diseases. Pediatr Nephrol 2005; 20:1299-305.
12. Niaudet P, Rotig A. Renal involvement in mitochondrial cytopathies. Pediatr Nephrol 1996; 10:368-73.
13. Rahman S, Hargreaves I, Clayton P, Heales S. Neonatal presentation of coenzyme Q10 deficiency. J Pediatr 2001; 139:456-8.
14. Rotig A, Appelkvist EL, Geromel V, Chretien D, Kadhom N, Edery P, et al. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet 2000; 356:391-5.
15. Salviati L, Sacconi S, Murer L, Zacchello G, Franceschini L, Laverda AM, et al. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition. Neurology 2005; 65 606-8.
16. Quinzii C, Naini A, Salviati L, Trevisson E, Navas P, DiMauro S, et al. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet 2006; 78 345-9.
17. Lopez LC, Schuelke M, Quinzii CM, Kanki T, Rodenburg RJ, Naini A, et al. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet 2006; 79:1125-9.
18. Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet 2001; 29:57-60.
19. Valnot I, von Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, et al. A mutation in the human heme A: famesyltransferase gene (COX10) causes cytochrome c oxidase deficiency. Hum Mol Genet 2000; 9:1245-9.
20. Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, et al. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 2007; 39:776-80.
21. Thirumurugan A, Thewles A, Gilbert RD, Hulton SA, Milford DV, Lote CJ, et al. Urinary L-lactate excretion is increased in renal Fanconi syndrome. Nephrol Dial Transplant 2004; 19:1767-73.
22. Soltoff SP. ATP and the regulation of renal cell function. Annu Rev Physiol 1986; 48:9-31.
23. Wirthensohn G, Guder WG. Renal substrate metabolism. Physiol Rev 1986; 66:469-97.
24. Lee JB, Peter HM. Effect of oxygen tension on glucose metabolism in rabbit kidney cortex and medulla. Am J Physiol 1969; 217 1464-71.
25. Guery B, Choukroun G, Noel LH, Clavel P, Rotig A, Lebon S, et al. The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation. J Am Soc Nephrol 2003; 14:2099-108.
26. Lowik MM, Hol FA, Steenbergen EJ, Wetzels JF, van den Heuvel LP. Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis. Nephrol Dial Transplant 2005; 20:336-41.
27. Li JY, Hsieh RH, Peng NJ, Lai PH, Lee CF, Lo YK, et al. A follow-up study in a Taiwanese family with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome. J Formos Med Assoc 2007; 106:528-36.
28. Gucer S, Talim B, Asan E, Korkusuz P, Ozen S, Unal S, et al. Focal segmental glomerulosclerosis associated with mitochondrial cytopathy: report of two cases with special emphasis on podocytes. Pediatr Dev Pathol 2005; 8:710-7.
29. Scaglia F, Vogel H, Hawkins EP, Vladutiu GD, Liu LL, Wong LJ. Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis. Am J Med Genet A 2003; 123:172-8.
30. Schmiedel J, Jackson S, Schafer J, Reichmann H. Mitochondrial cytopathies. J Neurol 2003; 250:267-77.
31. Reardon W, Ross RJ, Sweeney MG, Luxon LM, Pembrey ME, Harding AE, et al. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 1992; 340:1376-9.
32. Nan DN, Fernandez-Ayala M, Infante J, Matorras P, Gonzalez-Macias J. Progressive cardiomyopathy as manifestation of mitochondrial disease. Postgrad Med J 2002; 78:298-9.
33. Hansrote S, Croul S, Selak M, Kalman B, Schwartzman RJ. External ophthalmoplegia with severe progressive multiorgan involvement associated with the mtDNA A3243G mutation. J Neurol Sci 2002; 197:63-7.
34. Iwasaki N, Babazono T, Tsuchiya K, Tomonaga O, Suzuki A, Togashi M, et al. Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with diabetes mellitus and end stage renal disease. J Hum Genet 2001; 46 330-4.
35. Manwaring N, Jones MM, Wang JJ, Rochtchina E, Howard C, Mitchell P, et al. Population prevalence of the MELAS A3243G mutation. Mitochondrion 2007; 7:230-3.
36. Guillausseau PJ, Massin P, Dubois-LaForgue D, Timsit J, Virally M, Gin H, et al. Maternally inherited diabetes and deafness: A multicenter study. Ann Intern Med 2001; 134 (9 Pt 1):721-8.
37. Gerbitz KD, van den Ouweland JM, Maassen JA, Jaksch M. Mitochondrial diabetes mellitus: A review. Biochim Biophys Acta 1995; 1271 253-60.
38. Sangkhathat S, Kusafuka T, Yoneda A, Kuroda S, Tanaka Y, Sakai N, et al. Renal cell carcinoma in a pediatric patient with an inherited mitochondrial mutation. Pediatr Surg Int 2005; 21:745-8.
39. Wada T, Tanji N, Ozawa A, Wang J, Shimamoto K, Sakayama K, et al. Mitochondrial DNA mutations and 8-hydroxy-2′-deoxyguanosine Content in Japanese patients with urinary bladder and renal cancers. Anticancer Res 2006; 26:3403-8.
40. Hervouet E, Godinot C. Mitochondrial disorders in renal tumors. Mitochondrion 2006; 6:105-17.
41. Booker LM, Habermacher GM, Jessie BC, Sun QC, Baumann AK, Amin M, et al. North American white mitochondrial haplogroups in prostate and renal cancer. J Urol 2006; 175:468-72.
42. Meierhofer D, Mayr JA, Foetschl U, Berger A, Fink K, Schmeller N, et al. Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma. Carcinogenesis 2004; 25:1005-10.
43. Moslemi AR, Darin N. Molecular genetic and clinical aspects of mitochondrial disorders in childhood. Mitochondrion 2007; 7 241-52.
44. Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, et al. Fatal infantile cardioencephalo-myopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet 1999; 23 333-7.
45. Rotig A, Munnich A. Genetic features of mitochondrial respiratory chain disorders. J Am Soc Nephrol 2003; 14:2995-3007.
46. Pavenstadt H, Bek M. Podocyte electrophysiology, in vivo and in vitro. Microsc Res Tech 2002; 57:224-7.
47. Nakada K, Inoue K, Hayashi JI. Mito-mice: Animal models for mitochondrial DNA-based diseases. Semin Cell Dev Biol 2001; 12 459-65.
48. Nelson I, Hanna MG, Wood NW, Harding AE. Depletion of mitochondrial DNA by ddC in untransformed human cell lines. Somat Cell Mol Genet 1997; 23:287-90.
49. Chomyn A, Martinuzzi A, Yoneda M, Daga A, Hurko O, Johns D, et al. MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Proc Natl Acad Sci USA 1992; 89:4221-5.
50. Rusanen H, Majamaa K, Hassinen IE. Increased activities of antioxidant enzymes and decreased ATP concentration in cultured myoblasts; with the 3243A →G mutation in mitochondrial DNA. Biochim Biophys Acta 2000; 1500:10-6.
51. Moudy AM, Handran SD, Goldberg MP, Ruffin N, Karl I, Kranz-Eble P, et al. Abnormal calcium homeostasis and mitochondrial polarization in a human encephalomyopathy. Proc Natl Acad Sci USA 1995; 92 729-33.
52. James AM, Wei YH, Pang CY, Murphy MP. Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations. Biochem J 1996; 318 (Pt 2):401-7.
53. Helm M, Florentz C, Chomyn A, Attardi G. Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR). Nucleic Acids Res 1999; 27:756-63.
54. Mirabella M, Di GS, Silvestri G, Tonali P, Servidei S. Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: A potential pathogenic mechanism. Brain 2000; 123 (Pt 1) 93-104.
55. Hagiwara M, Yamagata K, Capaldi RA, Koyama A. Mitochondrial dysfunction in focal segmental glomerulo-sclerosis of puromycin aminonucleoside nephrosis. Kidney Int 2006; 69:1146-52.
56. Nisoli E, Falcone S, Tonello C, Cozzi V, Palomba L, Fiorani M, et al Mitochondrial biogenesis by NO yields functionally active mitochondria in mammals. Proc Natl Acad Sci USA 2004; 101 16507-12.
57. Jacobson J, Duchen MR, Hothersall J, Clark JB, Heales SJ. Induction of mitochondrial oxidative stress in astrocytes by nitric oxide precedes disruption of energy metabolism. J Neurochem 2005; 95:388-95.
58. Benard G, Faustin B, Passerieux E, Galinier A, Rocher C, Bellance N, et al. Physiological diversity of mitochondrial oxidative phosphorylation. Am J Physiol, Cell Physiol 2006; 291 C1172-82.
59. Khan SM, Smigrodzki RM, Swerdlow R. Cell and animal models of mtDNA biology: Progress and prospects. Am J Physiol, Cell Physiol 2007; 292:c658-69.
60. Emma F, Pizzini C, Tessa A, Di GS, Onetti-Muda A, Santorelli FM, et al. "Bartter-like" phenotype in Kearns-Sayre syndrome. Pediatr Nephrol 2006; 21:355-60.
61. McDonnell MT, Schaefer AM, Blakely EL, McFarland R, Chinnery PF, Turnbull DM, et al. Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells. Eur J Hum Genet 2004; 12:778-81.
62. Simmons CF Jr, Bogusky RT, Humes HD. Inhibitory effects of gentamicin on renal mitochondrial oxidative phosphorylation. J Pharmacol Exp Ther 1980; 214:709-15.
63. DiCataldo A, Palumbo M, Pittala D, Renis M, Schiliro G, Russo A, et al. Deletions in the mitochondrial DNA and decrease in the oxidative phosphorylation activity of children with Fanconi syndrome secondary to antiblastic therapy. Am J Kidney Dis 1999; 34:98-106.
64. Takebayashi S, Jimi S, Segawa M, Takaki A. Mitochondrial DNA deletion of proximal tubules is the result of itai-itai disease. Clin Exp Nephrol 2003; 7:18-26.
65. Miller RF, Shahmonesh M, Hanna MG, Unwin RJ, Schapira AH, Weller IV. Polyphenotypic expression of mitochondrial toxicity caused by nucleoside reverse transcriptase inhibitors. Antivir Ther 2003; 8:253-7.
66. Peyriere H, Reynes J, Rouanet I, Daniel N, de Boever CM, Mauboussin JM, et al. Renal tubular dysfunction associated with tenofovir therapy: Report of 7 cases. J Acquir Immune Defic Syndr 2004; 35:269-73.
67. de la Prada FJ, Prados AM, Tugores A, Uriol M, Saus C, Morey A. Acute renal failure and proximal renal tubular dysfuntion in a patient with acquired immunodeficiency syndrome treated with tenofovir. Nefrologia 2006; 26:626-30.
68. Cote HC, Magil AB, Harris M, Scarth BJ, Gadawski I, Wang N, et al. Exploring mitochondrial nephrotoxicity as a potential mechanism of kidney dysfunction among HIV-infected patients on highly active antiretroviral therapy. Antivir Ther 2006; 11:79-86.
69. Betts J, Jaros E, Perry RH, Schaefer AM, Taylor RW, bdel-All Z, et al Molecular neuropathology of MELAS: Level of heteroplasmy in individual neurones and evidence of extensive vascular involvement. Neuropathol Appl Neurobiol 2006; 32:359-73.
70. Nariai T, Ohno K, Ohta Y, Hirakawa K, Ishii K, Senda M. Discordance between cerebral oxygen and glucose metabolism, and hemodynamics in a mitochondrial encephalomyopathy, lactic acidosis, and strokelike episode patient. J Neuroimaging 2001; 11:325-9.
71. Doleris LM, Hill GS, Chedin P, Nochy D, Bellanne-Chantelot C, Hanslik T, et al. Focal segmental glomerulosclerosis associated with mitochondrial cytopathy. Kidney Int 2000; 58:1851-8.
72. Walker UA, Collins S, Byrne E. Respiratory chain encephalomyopathies: A diagnostic classification. Eur Neurol 1996; 36:260-7.
73. Cooper JM, Mann VM, Schapira AH. Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: effect of ageing. J Neurol Sci 1992; 113:91-8.
74. Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 2002; 59:1406-11.
75. Bianchi MC, Sgandurra G, Tosetti M, Battini R, Cioni G. Brain magnetic resonance in the diagnostic evaluation of mitochondrial encephalopathies. Biosci Rep 2007; 27:69-85.
76. Geldof K, Ramboer K, Goethals JM, Verhaeghe L. CT and MRI appearance of mitochondrial encephalopathy. JBR-BTR 2007; 90:288-9.
77. Bi WL, Baehring JM, Lesser RL. Evolution of brain imaging abnormalities in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. J Neuroophthalmol 2006; 26:251-6.
78. Meulemans A, Gerlo E, Seneca S, Lissens W, Smet J, Van CR, et al. The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders. Acta Neurol Belg 2007; 107:78-83.
79. McDonnell MT, Schaefer AM, Blakely EL, McFarland R, Chinnery PF, Turnbull DM, et al. Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells. Eur J Hum Genet 2004; 12:778-81.
80. Tuppen HA, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, et al. Further pitfalls in the diagnosis of mtDNA mutations: Homoplasmic mt-tRNA mutations. J Med Genet 2008; 45:55-61.
81. Cardoso SM, Santana I, Swerdlow RH, Oliveira CR. Mitochondria dysfunction of Alzheimer's disease cybrids enhances Abeta toxicity. J Neurochem 2004; 89:1417-26.
82. DiMauro S, Hirano M, Schon EA. Approaches to the treatment of mitochondrial diseases. Muscle Nerve 2006; 34:265-83.
83. Kaufmann P, Engelstad K, Wei Y, Jhung S, Sano MC, Shungu DC, et al Dichloroacetate causes toxic neuropathy in MELAS: A randomized, controlled clinical trial. Neurology 2006; 66:324-30.
84. Armstrong JS. Mitochondria-directed Therapeutics. Antioxid Redox Signal, vol 10. New Rochelle, NY, Mary Ann Liebert, Inc. publishers, 2008:575-8.
85. Chan DC. Mitochondria: Dynamic organelles in disease, aging, and development. Cell 2006; 125:1241-52.
86. Taylor RW, Wardell TM, Connolly BA, Turnbull DM, Lightowlers RN. Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates. Nucleic Acids Res 2001; 29:3404-12.
87. Manfredi G, Fu J, Ojaimi J, Sadlock JE, Kwong JQ, Guy J, et al. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Nat Genet 2002; 30:394-9.