Sperm mitochondrial mutations as a cause of low sperm motility

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

Sperm mitochondrial mutations as a cause of low sperm motility

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

Department of Ageing Research, Manipal School of Life Sciences, Manipal

Research output: Contribution to journal › Article › peer-review

80 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 language	English
Pages (from-to)	388-392
Number of pages	5
Journal	Journal of Andrology
Volume	24
Issue number	3
Publication status	Published - 05-2003

All Science Journal Classification (ASJC) codes

Endocrinology, Diabetes and Metabolism
Reproductive Medicine
Endocrinology
Urology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Cite this

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T1 - Sperm mitochondrial mutations as a cause of low sperm motility

AU - Thangaraj, Kumarasamy

AU - Joshi, Manjunath B.

AU - Reddy, Alla G.

AU - Rasalkar, Avinash A.

AU - Singh, Lalji

PY - 2003/5

Y1 - 2003/5

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AB - 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.

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Sperm mitochondrial mutations as a cause of low sperm motility

Abstract

All Science Journal Classification (ASJC) codes

UN SDGs

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