Sperm mitochondrial mutations as a cause of low sperm motility

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

Research output: Contribution to journalArticlepeer-review

80 Citations (Scopus)


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
Issue number3
Publication statusPublished - 05-2003

All Science Journal Classification (ASJC) codes

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


Dive into the research topics of 'Sperm mitochondrial mutations as a cause of low sperm motility'. Together they form a unique fingerprint.

Cite this