title: Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men.
abstract: In this study we performed a systematic sequence analysis of 6 mitochondrial genes (cytochrome oxidase I, cytochrome oxidase II, cytochrome oxidase III, adenosine triphosphate synthase6, ATP synthase8, and cytochrome b] in 66 infertile men suffering from asthenospermia (n=34) in comparison to normospermic infertile men (n=32) and fertile men (n=100) from Tunisian population. A total of 72 nucleotide substitutions in blood cells mitochondrial DNA were found; 63 of them were previously identified and reported in the human mitochondrial DNA database ( www.mitomap.org ) and 9 were novel. We also detected in 3 asthenospermic patients a novel heteroplasmic missense mitochondrial mutation (m.9387 G>A) in COXIII gene (8.8%) that was not found in any of normospermic infertile and fertile men. This mutation substituting the valine at position 61 to methionine in a conserved amino acid in the transmembrane functional domain of the polypeptide, induces a reduction of the hydropathy index (from +1.225 to +1.100) and a decrease of the protein 3D structures number (from 39 to 32) as shown by PolyPhen bioinformatic program.
authors: Laboratory of Molecular Human Genetics, Sfax Faculty of Medicine, University of Sfax, Avenue Majida Boulila, 3029, Sfax, Tunisia. asiwarbaklouti@gmail.com
authors: Siwar
authors: S
authors: Baklouti-Gargouri
authors: Myriam
authors: M
authors: Ghorbel
authors: Afif
authors: A
authors: Ben Mahmoud
authors: Emna
authors: E
authors: Mkaouar-Rebai
authors: Meriam
authors: M
authors: Cherif
authors: Nozha
authors: N
authors: Chakroun
authors: Afifa
authors: A
authors: Sellami
authors: Faiza
authors: F
authors: Fakhfakh
authors: Leila
authors: L
authors: Ammar-Keskes
mesh_terms: D000595:Amino Acid Sequence; D053627:Asthenozoospermia / Q000235:genetics*; D001483:Base Sequence; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D019295:Computational Biology; D017931:DNA Primers / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D014416:Tunisia
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV
references: Am J Hum Genet. 1998 Jul;63(1):29-36
references: 9634511
references: Hum Mol Genet. 2001 Mar 15;10(6):591-7
references: 11230178
references: Andrologia. 2012 May;44 Suppl 1:376-82
references: 21762191
references: Indian J Biochem Biophys. 2007 Dec;44(6):437-42
references: 18320842
references: Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):13859-63
references: 8943026
references: Mol Reprod Dev. 1994 Mar;37(3):345-62
references: 8185940
references: Indian J Biochem Biophys. 2009 Apr;46(2):172-7
references: 19517995
references: Andrologia. 1999 Dec;31(6):339-45
references: 10643508
references: J Androl. 2000 Mar-Apr;21(2):189-99
references: 10714811
references: Mol Hum Reprod. 1998 Jul;4(7):657-66
references: 9701788
references: Mol Hum Reprod. 1997 Sep;3(9):811-4
references: 9358008
references: Annu Rev Nutr. 1994;14:535-68
references: 7946532
references: Int J Androl. 2001 Jun;24(3):175-82
references: 11380706
references: Mitochondrion. 2002 Nov;2(1-2):3-25
references: 16120305
references: Nat Genet. 1999 Oct;23(2):147
references: 10508508
references: Hereditas. 2001;135(1):65-70
references: 12035616
references: Hum Reprod. 1993 Nov;8(11):1863-8
references: 8288752
references: Proc Natl Acad Sci U S A. 1997 Jan 21;94(2):514-9
references: 9012815
references: Science. 1999 Mar 5;283(5407):1482-8
references: 10066162
references: J Androl. 2003 May-Jun;24(3):388-92
references: 12721215
references: Biol Reprod. 1995 Apr;52(4):729-36
references: 7779994
references: Am J Hum Genet. 2000 Sep;67(3):682-96
references: 10936107
references: Zhonghua Nan Ke Xue. 2008 Apr;14(4):321-3
references: 18481423
references: Arch Androl. 1992 Mar-Apr;28(2):135-41
references: 1520038
references: Diabetologia. 2002 Nov;45(11):1577-83
references: 12436342
references: Trends Genet. 1997 Nov;13(11):450-5
references: 9385842
references: Mol Hum Reprod. 2002 Aug;8(8):719-21
references: 12149402
references: J Neurol Sci. 1998 Jan 8;153(2):251-63
references: 9511882
references: Am J Hum Genet. 1999 May;64(5):1276-81
references: 10205257
references: Biochem Biophys Res Commun. 1979 Sep 27;90(2):582-6
references: 389242