title: Identifying potential pitfalls in interpreting mitochondrial DNA mutations of male infertility cases.
abstract: OBJECTIVE
  Recently, a significantly higher ratio of nucleotide changes in the mtDNA genes: COII, ATPase 6, ATPase 8, ND2, ND3, ND4, and ND5 was reported in spermatozoa from populations of infertile Indian men, compared suggesting that screening for mtDNA mutations could provide insight into the aetiology of male infertility. In this study, we examined the published data and found serious errors in the original acquisition and analysis of the data.
  
  
  METHODS
  The mtDNA data associated with male infertility in Indian populations were retrieved from the published sources. The mtDNA substitution values of infertile and control groups were evaluated using phylogenetic methods and previously published mtDNA phylogenies.
  
  
  RESULTS
  Most of the mtDNA polymorphisms reported as significantly correlated with infertility were more commonly found in general populations. Further, our analysis showed that some of the mtDNA substitutions were erroneously overestimated in the infertile groups and underestimated in the control groups, and vice-versa.
  
  
  CONCLUSIONS
  Contrary to earlier claims, our analysis demonstrated no significant association between the mtDNA polymorphisms and male infertility in these studies. Further, these errors in the published data impune the usefulness of mitochondrial molecular analyses in male infertility diagnosis.
authors.affiliation: Laboratory for Conservation & Utilization of Bio-resources, Yunnan University, Kunming, China. empalani@yahoo.com
authors.forename: Malliya Gounder
authors.initials: MG
authors.lastname: Palanichamy
authors.forename: Ya-Ping
authors.initials: YP
authors.lastname: Zhang
mesh_terms: D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology; D007248:Infertility, Male / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D009154:Mutation; D010802:Phylogeny; D011110:Polymorphism, Genetic; D013094:Spermatozoa / Q000473:pathology*; D013223:Statistics as Topic
chemical_list: D004272:DNA, Mitochondrial
references.citation: Indian J Med Res. 2009 Feb;129(2):127-37
references.pmid: 19293438
references.citation: Indian J Biochem Biophys. 2007 Dec;44(6):437-42
references.pmid: 18320842
references.citation: Int J Androl. 2008 Aug;31(4):450-3
references.pmid: 17916186
references.citation: Mol Biol Evol. 2007 Mar;24(3):868-74
references.pmid: 17218641
references.citation: Fertil Steril. 2008 Mar;89(3):738-41
references.pmid: 17517394
references.citation: Mol Hum Reprod. 2002 Aug;8(8):719-21
references.pmid: 12149402
references.citation: Mol Biol Evol. 2006 Mar;23(3):683-90
references.pmid: 16361303
references.citation: PLoS One. 2009 Oct 13;4(10):e7447
references.pmid: 19823670
references.citation: Genomics. 1999 Aug 15;60(1):67-77
references.pmid: 10458912
references.citation: Int J Androl. 2005 Aug;28(4):241-7
references.pmid: 16048637
references.citation: Int J Androl. 2005 Apr;28(2):65-73
references.pmid: 15811066
references.citation: Mol Biol Evol. 2007 Feb;24(2):436-48
references.pmid: 17099056
references.citation: Mitochondrion. 2010 Aug;10(5):419-28
references.pmid: 20595008
references.citation: Indian J Biochem Biophys. 2009 Apr;46(2):172-7
references.pmid: 19517995
references.citation: Am J Hum Genet. 2004 Dec;75(6):966-78
references.pmid: 15467980
references.citation: J Androl. 2003 May-Jun;24(3):388-92
references.pmid: 12721215
references.citation: Indian J Urol. 2008 Apr;24(2):150-4
references.pmid: 19468388
references.citation: BMC Res Notes. 2009 Feb 04;2:18
references.pmid: 19192313
references.citation: Nat Med. 1997 Feb;3(2):124-5
references.pmid: 9018221
references.citation: Trends Genet. 2006 Jun;22(6):339-45
references.pmid: 16678300
references.citation: Int J Androl. 2001 Jun;24(3):175-82
references.pmid: 11380706
references.citation: Proc Natl Acad Sci U S A. 1997 Dec 23;94(26):14900-5
references.pmid: 9405711
references.citation: Nat Genet. 1999 Oct;23(2):147
references.pmid: 10508508