This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Thangaraj, K. Articles by Singh, L. Search for Related Content PubMed PubMed Citation Articles by Thangaraj, K. Articles by Singh, L.

Sperm Mitochondrial Mutations as a Cause of Low Sperm Motility

From the Centre for Cellular and Molecular Biology, Hyderabad, India.

Correspondence to: Dr Lalji Singh, Centre for Cellular and Molecular Biology, Uppal Rd, Hyderabad 500 007, India (e-mail: lalji{at}ccmb.res.in).

We report the unique case of a 28-year-old man who, in spite of having a varicocele and a sperm concentration of 5 million/mL, of which 10% were motile and 20% had normal forms (oligoasthenoteratozoospermia [OAT]), was fertile. This was confirmed by paternity testing using 16 autosomal and 6 Y-chromosomal short tandem repeat (STR) loci. An analysis of mitochondrial genes that included cytochrome oxidase I (COI), cytochrome oxidase II (COII), adenosine triphosphate synthase6 (ATPase6), ATPase8, transfer ribonucleic acid (tRNA) serine I, tRNA lysine, and NADH dehydrogenase3 (ND3) revealed, for the first time, 9 missense and 27 silent mutations in the sperm's mitochondrial DNA (mtDNA) but not in the DNA from the blood cells. There was a 2-nucleotide deletion in the mitochondrial COII genes, introducing a stop codon, which might be responsible for low sperm motility.

     Key words: Infertility, oligoasthenoteratozoospermia, mitochondrial DNA, short tandem repeats

This article has been cited by other articles:

				D. E. Marchesi and H. L. Feng Sperm DNA Integrity From Sperm to Egg J Androl, July 1, 2007; 28(4): 481 - 489. [Full Text] [PDF]