Mitochondrial tRNALeu/Lys and ATPase 6/8 gene variations in spinocerebellar ataxias

Neurodegenerative Diseases

Volumn 6, Issue 1-2, 2008, Pages 16-22

  Safaei, Sepideh ^a   Houshmand, Massoud ^b,c   Banoei, Mohammad Mehdi ^b   Panahi, Mehdi Shafa Shariat ^b   Nafisi, Shahriar ^d   Parivar, Kazem ^d   Rostami, Maryam ^c   Shariati, Parvin ^b  

^a ISLAMIC AZAD UNIVERSITY   (Iran)

^b NATIONAL INSTITUTE OF GENETIC ENGINEERING AND BIOTECHNOLOGY   (Iran)

^c Special Medical Center Iran   (Iran)

^d TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

ATPase 6 8; Cytochrome oxidase II; Cytosine adenine guanine repeat; NADH dehydrogenase I; tRNALeu; tRNALys

Indexed keywords

ADENOSINE TRIPHOSPHATASE; AMINO ACID; ATAXIN 1; CYTOCHROME C OXIDASE; GENOMIC DNA; MITOCHONDRIAL DNA; POLYGLUTAMINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; ALANINE; ATAXIN 7; ATAXIN-7; ATP SYNTHASE 8, HUMAN; ATXN3 PROTEIN, HUMAN; CACNA1A PROTEIN, HUMAN; CALCIUM CHANNEL; DNA; GLYCINE; LEUCINE TRANSFER RNA; LYSINE TRANSFER RNA; METHIONINE; NERVE PROTEIN; NUCLEAR PROTEIN; PRIMER DNA; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; REPRESSOR PROTEIN; SCA2 PROTEIN; THREONINE; UNCLASSIFIED DRUG; VALINE;

ARTICLE; BLOOD; CELL ORGANELLE; CEREBELLAR ATAXIA; CLINICAL ARTICLE; DEGENERATIVE DISEASE; DNA EXTRACTION; GENE DELETION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUNTINGTON CHOREA; LYMPHOCYTE; MITOCHONDRIAL GENE; PRIORITY JOURNAL; SPINOCEREBELLAR ATAXIA; TRINUCLEOTIDE REPEAT; AMINO ACID SUBSTITUTION; ENZYMOLOGY; GENE AMPLIFICATION; GENETICS; METABOLISM; SPINOCEREBELLAR DEGENERATION;

ALANINE; AMINO ACID SUBSTITUTION; CALCIUM CHANNELS; DNA; DNA PRIMERS; GENE AMPLIFICATION; GENETIC VARIATION; GLYCINE; HUMANS; METHIONINE; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; REPRESSOR PROTEINS; RNA, TRANSFER, LEU; RNA, TRANSFER, LYS; SPINOCEREBELLAR ATAXIAS; THREONINE; TRINUCLEOTIDE REPEATS; VALINE;

EID: 57449084699     PISSN: 16602854     EISSN: 16602862     Source Type: Journal    
DOI: 10.1159/000170885     Document Type: Article

References (42)

1. Grewal RP, Tayag E, Figueroa KP, Zu L, Durazo A, Nunez C, Pulst SM: Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia. Neurology 1998;51:1423-1426.
2. Klockgether T, Wullner U, Spauschus A, Evert B: The molecular biology of the autosomal-dominant cerebellar ataxias. Mov Disord 2000;15:604-612.
3. Yang JL, Weissman L, Bohr VA, Mattson MP: Mitochondrial DNA damage and repair in neurodegenerative disorders. DNA Repair (Amst) 2008;7:1110-1120.
4. Manfredi G, Beal MF: The role of mitochondria in the pathogenesis of neurodegenerative diseases. Brain Pathol 2000;10:462-472.
5. Keating DJ: Mitochondrial dysfunction, oxidative stress, regulation of exocytosis and their relevance to neurodegenerative diseases. J Neurochem 2007;104:298-305.
6. Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, et al: MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 1992;31:391-398.
7. Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Harding AE: The mitochondrial DNA transfer RNALeu(UUR) A->G(3243) mutation. A clinical and genetic study. Brain 1995;118:721-734.
8. Leonard JV, Schapira AH: Mitochondrial respiratory chain disorders. 1. Mitochondrial DNA defects. Lancet 2000;355:299-304.
9. Lee YC, Lu YC, Chang MH, Soong BW: Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan. J Neurol Sci 2007;254:65-68.
10. Schapira AH: Mitochondrial involvement in Parkinson's disease, Huntington's disease, hereditary spastic paraplegia and Friedreich's ataxia. Biochim Biophys Acta 1999;1410:159-170.
11. Schapira AH: The 'new' mitochondrial disorders. J Neurol Neurosurg Psychiatry 2002;72:144-149.
12. Giuliano P, De Cristofaro T, Affaitati A, Pizzulo GM, Feliciello A, Criscuolo C, De Michele G, Filla A, Avvedimento EV, Varrone S: DNA damage induced by polyglutamine-expanded proteins. Hum Mol Genet 2003;12:2301-2309.
13. Panov AV, Gutekunst CA, Leavitt BR, Hayden MR, Burke JR, Strittmatter WJ, Greenamyre JT: Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nat Neurosci 2002;5:731-736.
14. Morgan-Hughes JA, Sweeney MG, Cooper JM, Hammans SR, Brockington M, Schapira AH, Harding AE, Clark JB: Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. Biochim Biophys Acta 1995;1271:135-140.
15. Hammans SR, Sweeney MG, Brockington M, Lennox GG, Lawton NF, Kennedy CR, Morgan-Hughes JA, Harding AE: The mitochondrial DNA transfer RNA(Lys)A->G (8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Brain 1993;116:617-632.
16. Fang W, Huang CC, Chu NS, Lee CC, Chen RS, Pang CY, Shih KD, Wei YH: Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene. Muscle Nerve 1994;17:52-57.
17. Vilarinho L, Barbot C, Carrozo R, Calado E, Tessa A, Dionisi-Vici C, Guimaraes A, Santorelli FM: Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation. J Inherit Metab Dis 2001;24:883-884.
18. Carelli V, Baracca A, Barogi S, Pallotti F, Valentino ML, Montagna P, Zeviani M, Pini A, Lenaz G, Baruzzi A, Solaini G: Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation. Arch Neurol 2002;59:264-270.
19. Modi G: Morphological abnormalities of hepatic mitochondria in two patients with spinocerebellar ataxia type 7. J Neurol Neurosurg Psychiatry 2000;68:393-394.
20. Kaplan J: Spinocerebellar ataxias due to mitochondrial defects. Neurochem Int 2002;40:553-557.
21. Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY: Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-226.
22. Ahari SE, Houshmand M, Panahi MS, Kasraie S, Moin M, Bahar MA: Investigation on mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian multiple sclerosis patients. Cell Mol Neurobiol 2007;27:695-700.
23. http://www.gen.emory.edu/mitomap/mitoseq.html
24. Houshmand M, Panahi MS, Nafisi S, Soltanzadeh A, Alkandari FM: Identification and sizing of GAA trinucleotide repeat expansion, investigation for D-loop variations and mitochondrial deletions in Iranian patients with Friedreich's ataxia. Mitochondrion 2006;6:82-88.
25. MITOMAP: A human mitochondrial genome database. http://www.mitomap.org.
26. Ruiz-Pesini E, Lott MT, Procaccio V, Poole J, Brandon MC, Mishmar D, Yi C, Kreuziger J, Baldi P, Wallace DC: An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res 2007;35:D823-D828.
27. Ingman M, Gyllensten U: mtDB: human mitochondrial genome database, a resource for population genetics and medical sciences. Nucleic Acids Res 2006;34:D749-D751.
28. Liu CS, Cheng WL, Kuo SJ, Li JY, Soong BW, Wei YH: Depletion of mitochondrial DNA in leukocytes of patients with poly-Q diseases. J Neurol Sci 2008;264:18-21.
29. Wang ZC, Wang XM, Jiao BH, Jin YX, Miao MY, Zhu KJ, Ni QG: Detection of mitochondrial DNA deletion by a modified PCR method in a 60Co radiation-exposed patient. IUBMB Life 2003;55:133-137.
30. Jongpiputvanich S, Sueblinvong T, Norapucsunton T: Mitochondrial respiratory chain dysfunction in various neuromuscular diseases. J Clin Neurosci 2005;12:426-428.
31. Zifa E, Theotokis P, Kaminari A, Maridaki H, Leze H, Petsiava E, Mamuris Z, Stathopoulos C: A novel G3337A mitochondrial ND1 mutation related to cardiomyopathy co-segregates with tRNALeu(CUN) A12308G and tRNAThr C15946T mutations. Mitochondrion 2008;8:229.
32. Arbustini E, Diegoli M, Fasani R, Grasso M, Morbini P, Banchieri N, Bellini O, Dal Bello B, Pilotto A, Magrini G, Campana C, Fortina P, Gavazzi A, Narula J, Vigano M: Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy. Am J Pathol 1998;153:1501-1510.
33. Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Pequignot E, Munnich A, Rotig A: Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 1995;11:144-149.
34. Nogueira C, Nunes J, Evangelista T, Fattori F, Tessa A, Pereira C, Santorelli FM, Vilarinho L: A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy. Mitochondrion 2007;7:396-398.
35. Jeub M, Herbst M, Spauschus A, Fleischer H, Klockgether T, Wuellner U, Evert BO: Potassium channel dysfunction and depolarization resting membrane potential in a cell model of SCA3. Exp Neurol 2006;201:182-192.
36. Chinnery PF, Brown DT, Archibald K, Curtis A, Turnbull DM: Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations. J Med Genet 2002;39:E22.
37. Dorval V, Fraser PE: Sumo on the road to neurodegeneration. Biochim Biophys Acta 2007;1773:694-706.
38. Cha JH: Transcriptional dysregulation in Huntington's disease. Trends Neurosci 2000;23:387-392.
39. van Roon-Mom WM, Reid SJ, Faull RL, Snell RG: Tata-binding protein in neurodegenerative disease. Neuroscience 2005;133:863-872.
40. Scheffler IE: A century of mitochondrial research: achievements and perspectives. Mitochondrion 2001;1:3-31.
41. Banoei MM, Houshmand M, Panahi MS, Shariati P, Rostami M, Manshadi MD, Majidizadeh T: Huntington's disease and mitochondrial DNA deletions: event or regular mechanism for mutant huntingtin protein and CAG repeats expansion?! Cell Mol Neurobiol 2007;27:867-875.
42. Petrozzi L, Ricci G, Giglioli NJ, Siciliano G, Mancuso M: Mitochondria and neurodegeneration. Biosci Rep 2007;27:87-104.