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 journalArticle

69 Citations (Scopus)

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

Fingerprint

Sperm Motility
Electron Transport Complex IV
Spermatozoa
Transfer RNA
Mutation
Oligospermia
Varicocele
Paternity
Mitochondrial Genes
Terminator Codon
Mitochondrial DNA
NAD
Microsatellite Repeats
Serine
Lysine
Blood Cells
Nucleotides
Adenosine Triphosphate
DNA
Genes

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.
Thangaraj, Kumarasamy ; Joshi, Manjunath B. ; Reddy, Alla G. ; Rasalkar, Avinash A. ; Singh, Lalji. / Sperm mitochondrial mutations as a cause of low sperm motility. In: Journal of Andrology. 2003 ; Vol. 24, No. 3. pp. 388-392.
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Thangaraj, K, Joshi, MB, Reddy, AG, Rasalkar, AA & Singh, L 2003, 'Sperm mitochondrial mutations as a cause of low sperm motility', Journal of Andrology, vol. 24, no. 3, pp. 388-392.

Sperm mitochondrial mutations as a cause of low sperm motility. / Thangaraj, Kumarasamy; Joshi, Manjunath B.; Reddy, Alla G.; Rasalkar, Avinash A.; Singh, Lalji.

In: Journal of Andrology, Vol. 24, No. 3, 05.2003, p. 388-392.

Research output: Contribution to journalArticle

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Thangaraj K, Joshi MB, Reddy AG, Rasalkar AA, Singh L. Sperm mitochondrial mutations as a cause of low sperm motility. Journal of Andrology. 2003 May;24(3):388-392.