Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men

Molecular Biology Reports

Volumn 40, Issue 8, 2013, Pages 4705-4712

  Baklouti Gargouri, Siwar ^a   Ghorbel, Myriam ^a   Ben Mahmoud, Afif ^a   Mkaouar Rebai, Emna ^a   Cherif, Meriam ^a   Chakroun, Nozha ^a   Sellami, Afifa ^a   Fakhfakh, Faiza ^a   Ammar Keskes, Leila ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

Author keywords

COXIII gene; m.9387 G>A; Male infertility; Mitochondrial DNA polymorphism

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ASTHENOSPERMIA; ATPASE6 GENE; ATPASE8 GENE; COMPUTER PROGRAM; CONTROLLED STUDY; COXI GENE; COXII GENE; COXIII GENE; CYTB GENE; DNA EXTRACTION; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; MITOCHONDRIAL GENE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; SEMEN ANALYSIS; SEQUENCE ANALYSIS; SPERMATOZOON MOTILITY; TUNISIA;

EID: 84881149358     PISSN: 03014851     EISSN: 15734978     Source Type: Journal    
DOI: 10.1007/s11033-013-2566-7     Document Type: Article

References (33)

1. Bafaluy MPB, Silva PF, Enriquez JA (2002) The thankless task of playing genetics with mammalian mitochondrial DNA: a 30-year review. Mitochondrion 2:3-25
2. Shoffner JM, Wallace DC (1994) Oxidative phosphorylation diseases and mitochondrial DNA mutations: diagnosis and treatment. Annu Rev Nutr 14:535-568
3. Fukunaga M, Yielding KL (1979) Fate during cell growth of yeast mitochondrial and nuclear DNA after photolytic attachment of the monoazide analog of ethidium bromide. Biochem Biophys Res Commun 90:582-586
4. Yakes FM, van Houton B (1997) Mitochondrial DNA damage is more extensive and persists longer than nuclear DNA damage in human cells following oxidative stress. Proc Natl Acad Sci 94:514-519
5. Bogenhagen DF (1999) Repair of mtDNA in vertebrates. Am J Hum Genet 64:1276-1281
6. Lightowlers RN, Chinnery PF, Turnbull DM, Howell N (1997) Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. Trends Genet 13:450-455
7. Graeber MB, Müller U (1998) Recent developments in the molecular genetics of mitochondrial disorders. J Neurol Sci 153:251-263
8. Wallace DC (1999) Mitochondrial diseases in man and mouse. Science 283:1482-1488
9. Nomiyama T, Tanaka Y, Hattori N, Nishimaki K, Nagasaka K, Kawamori R, Ohta S (2002) Accumulation of somatic mutation in mitochondrial DNA extracted from peripheral blood cells in diabetic patients. Diabetologia 45:1577-1583
10. Hanna MG, Nelson IP, Rahman S, Lane RJ, Land J, Heales S, Cooper MJ, Schapira AH, Morgan-Hughes JA, Wood NW (1998) Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA. Am J Hum Genet 63:29-36
11. Cavelier L, Erikson I, Tammi M, Jalonen P, Lindholm E, Jazin E, Smith P, Luthman H, Gyllensten U (2001) MtDNA mutations in maternally inherited diabetes: presence of the 3397 ND1 mutation previously associated with Alzheimer's and Parkinson's disease. Hereditas 135:65-70
12. Holyoake AJ, McHugh P, Wu M, O'Carroll S, Benny P, Sin IL, Sin FY (2001) High incidence of single nucleotide substitutions in the mitochondrial genome is associated with poor semen parameters in men. Int J Androl 24:175-182
13. Spiropoulos J, Turnbull DM, Chinnery PF (2002) Can mitochondrial DNA mutations cause sperm dysfunction? Mol Hum Reprod 8:719-727
14. Kumar R, Bhat A, Bamezai RN, Shamsi MB, Kumar R, Gupta NP, et al. (2007) Necessity of nuclear and mitochondrial genome analysis prior to ART/ICSI. Indian J Biochem Biophys 44:437-442
15. Kumar R, Venkatesh S, Kumar M, Tanwar M, Shamsi MB, Kumar R, et al. (2009) Oxidative stress and sperm mitochondrial DNA mutation in idiopathic oligoasthenozoospermic (OA) infertile men. Indian J Biochem Biophys 46(2):172-177
16. Kumar R, Bhat A, Sharma RK, Bamezai RN, Dada R (2007) Mitochondrial DNA mutations and polymorphism in idiopathic asthenozoospermic men of Indian origin. In: Proceedings of the 57th annual meeting of American Society of Human Genetics. San Diego, California, Oct 23-27
17. Kao S, Chao HT, Wei YH (1995) Mitochondrial deoxyribonucleic acid 4977-bp deletion is associated with diminished fertility and motility of human sperm. Biol Reprod 52:729-736
18. Gavella M, Lipovac V (1992) NADH-dependent oxidoreductase (diaphorase) activity and isozyme pattern of sperm in infertile men. Arch Androl 28:135-141
19. Cummins JM, Jequier AM, Kan R (1994) Molecular biology of human male infertility: links with aging, mitochondrial genetics, and oxidative stress? Mol Reprod Dev 37:345-362
20. Kao SH, Chao HT, Wei YH (1998) Multiple deletions of mitochondrial DNA are associated with the decline of motility and fertility of human spermatozoa. Mol Hum Reprod 4:657-666
21. Ankel-Simons F, Cummins JM (1996) Misconception about mitochondria and mammalian fertilization: implications for theories on human evolution. Proc Natl Acad Sci 93:13859-13863
22. Lestienne P, Reynier P, Chretien MF, Penisson-Besnier I, Malthiery Y, Rohmer V (1997) Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements. Mol Hum Reprod 3:811-814
23. Ruiz-Pesini E, Lapena AC, Diez-Sanchez C, Perez-Martos A, Montoya J, Alvarez E, Diaz M, Urries A, Montoro L, Lopez-Perez MJ, Enriquez JA (2000) Human mtDNA haplogroups associated with high or reduced spermatozoa motility. Am J Hum Genet 67:682-696
24. Folgero T, Bertheussen K, Lindal S, Torbergsen T, Oian P (1993) Mitochondrial disease and reduced sperm motility. Human Reprod 8:1863-1868
25. St JC (2000) John, D. Sakkas, C.L. Barratt. A role for mitochondrial DNA and sperm survival. J Androl 21:189-199
26. Spiropoulos J, Turnbull DM, Chinnery PF (2002) Can mitochondrial DNA mutations cause sperm dysfunction? Mol Hum Reprod 8:719-721
27. World Health Organization (1992) WHO laboratory manual for the examination of human semen and sperm-cervical interaction, 3rd edn. Cambridge University Press, Cambridge
28. Ghorbel M, Baklouti-Gargouri S, Keskes R, Sellami-Ben Hamida A, Feki-Chakroun N, Bahloul A, Fakhfakh F, Ammar-Keskes L (2011) Screening of ΔF508 mutation and IVS8-poly T polymorphism in CFTR gene in Tunisian infertile men without CBAVD. Andrologia 44(Suppl 1):376-382
29. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23(2):147
30. Sunyaev S, Ramensky V, Koch I, Lathe W III, Kondrashov AS, Bork P (2001) Prediction of deleterious human alleles. Hum Mol Genet 10:591-597
31. Thangaraj K, Joshi MB, Reddy AG, Rasalkar AA, Singh L (2003) Sperm mitochondrial mutations as a cause of low sperm motility. J Androl 24:388-392
32. Feng CQ, Song YB, Zou YG, Mao XM (2008) Mutation of MTCYB and MTATP6 is associated with asthenospermia. Zhonghua Nan Ke Xue 14:321-323
33. Holyoake AJ, Sin IL, Benny PS, Sin FY (1999) Association of a novel human mtDNA ATPase6 mutation with immature sperm cells. Andrologia 1:31-36