Investigation of tRNALys/Leuand ATPase 6/8 gene mutations in Iranian ataxia telangiectasia patients

Archives of Medical Science

Volumn 7, Issue 3, 2011, Pages 523-527

  Houshmand, Massoud ^a   Kasraie, Sadaf ^b   Ahari, Solmaz Etemad ^b   Moin, Mostafa ^c   Bahar, Mohammadali ^d   Zamani, Akram ^e  

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

^b ISLAMIC AZAD UNIVERSITY   (Iran)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e Special Medical Center Iran   (Iran)

Author keywords

Ataxia telangiectasia; ATPase 6 8 genes; Mitochondrial tRNA gene

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATASE 6; ADENOSINE TRIPHOSPHATASE 8; LEUCINE TRANSFER RNA; LYSINE TRANSFER RNA; MITOCHONDRIAL DNA; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA TELANGIECTASIA; CLINICAL ARTICLE; DNA POLYMORPHISM; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; IRAN; MITOCHONDRIAL GENE; MUTATIONAL ANALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; RNA ANALYSIS;

EID: 79960473274     PISSN: 17341922     EISSN: None     Source Type: Journal    
DOI: 10.5114/aoms.2011.23424     Document Type: Article

References (26)

1. Becker-Catania SG, Cheng G, Hwang MJ, et al. Ataxiatelangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. Mol Genet Metab 2000; 70: 122-33. (Pubitemid 30460455)
2. Shiloh Y. ATM and related protein kinases: safeguarding genome integrity. Nat Rev Cancer 2003; 3: 155-68. (Pubitemid 37328868)
3. Goodarzi AA, Block WD, Lees-Miller SP. The role of ATM and ATR in DNA damage-induced cell cycle control. Prog Cell Cycle Res 2003; 5: 393-411.
4. Vit JP, Moustacchi E, Rosselli F. ATM protein is required for radiation-induced apoptosis and acts before mitochondrial collapse. Int J Radiat Biol 2000; 76: 841-51. (Pubitemid 30352768)
5. Taylor RW, Turnbull M. Mitochondrial DNA mutations in human disease. Nat Rev Genet 2005; 6: 389-402. (Pubitemid 40577182)
6. Isaian A, Bogdanova NV, Houshmand M, et al. BAK, BAX and NBK/BIK proapoptotic gene alterations in Iranian patients with ataxia talangiectasia. J Clin Immunol 2010; 30: 132-7.
7. Houshmand M. Mitochondrial DNA mutations, pathogenicity and inheritance. Iran J Biotechnol 2003; 1: 1-18.
8. Sedgwick RP, Boder E. Ataxia talangiectasia. In: Handbook of clinical neurobiology. Elsevier 1991; 60: 347-423.
9. Safaei S, Houshmand M, Banoei MM, et al. Mitochondrial tRNA Leu/Lys and ATPase 6/8 gene variations in spinocerebellar ataxias. Neurodegen Dis 2008; 6: 16-22.
10. Lys/Leu and ATPase 6 genes mutations in Huntingtons disease. Cell Mol Neurobiol 2008; 28: 933-8.
11. Houshmand M, Sanati MH, Hooshiar Kashani B, et al. Investigation of mitochondrial deletions and haplogroups in Iranian ataxia-telangiectasia patient. Iran J Biotechnol 2006; 4: 64-8.
12. Wiesner RJ, Ruegg JC, Morano I. Counting target molecules by exponential polymerase chain reaction: copy number of mitochondrial DNA in rat tissues. Biochem Biophys Res Commun 1992; 183: 553-9.
13. Scheffler IE. A century of mitochondrial research: achievements and perspectives. Mitochondrion 2000; 1: 3-31.
14. Kokoszka JE, Coskun P, Esposito LA, Wallace DC. Increased mitochondrial oxidative stress in the Sod2 (+/-) mouse results in the age-related decline of mitochondrial function culminating in increased apoptosis. Proc Natl Sci USA 2001; 98: 2278-83. (Pubitemid 32209473)
15. Concannon P, Gatti RA. Diversity of ATM gene mutations detected in patients with ataxia - telangiectasia. Hum Mutat 1997; 10: 100-7. (Pubitemid 27327484)
16. Eaton JS, Ping Lin Z, Sartorelli AC, Bonawitz DN, Shadel SG. Ataxia-talangiectasia mutated kinase regulates ribonucleotide reductase and mitochondrial homeostasis. J Clin Investig 2007; 117: 2723-34. (Pubitemid 47494372)
17. Brown MD, Starikovskaya YB, Derbeneva O, et al. The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup. Human Genetics 2002; 110: 130-8. (Pubitemid 36067429)
18. Povalko N, Zakharova E, Rudenskaia G, et al. A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy. Mitochondrion 2005; 5: 194-9. (Pubitemid 40823306)
19. Poetsch M, Wittig H, Krause D, Lignitz E. The impact of mtDNA analysis between positions nt8306 and nt9021 for forensic casework. Mitochondrion 2003; 3: 133-7. (Pubitemid 37337201)
20. Rieder MJ, Taylor SL, Tobe VO, Nickerson DA. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Res 1998; 26: 967-73. (Pubitemid 28291649)
21. Spagnolo M, Tomelleri G, Vattemi G, Filosto M, Rizzuto N, Tonin P. A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia. Neuromusc Dis 2001; 11: 481-4.
22. Thomas AW, Edwards A, Sherratt EJ, Majid A, Gagg J, Alcolado JC. Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus. J Med Genet 1996; 33: 253-5. (Pubitemid 26070665)
23. Qian Y, Zhou X, Hu Y, et al. Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 2005; 332: 614-21. (Pubitemid 40725018)
24. Tanaka M, Ozawa T. Strand asymmetry in human mitochondrial DNA mutations. Genomics 1994; 22: 327-35. (Pubitemid 24258873)
25. Ozawa T, Tanaka M, Sugiyama S, et al. Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy. Biochem Biophys Res Commun 1991; 177: 518-25.
26. Ozawa T, Tanaka M, Ino H, et al. Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease. Biochem Biophys Res Commun 1991; 176: 938-46.