Sperm mitochondrial mutations as a cause of low sperm motility

Kumarasamy Thangaraj, Manjunath B. Joshi, Alla G. Reddy, Avinash A. Rasalkar, Lalji Singh

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Abstract

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.

Original languageEnglish
Pages (from-to)388-392
Number of pages5
JournalJournal of Andrology
Volume24
Issue number3
Publication statusPublished - 05-2003

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All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Reproductive Medicine
  • Endocrinology
  • Urology

Cite this

Thangaraj, K., Joshi, M. B., Reddy, A. G., Rasalkar, A. A., & Singh, L. (2003). Sperm mitochondrial mutations as a cause of low sperm motility. Journal of Andrology, 24(3), 388-392.