High incidence of single nucleotide substitutions in the mitochondrial genome is associated with poor semen parameters in men

A J Holyoake, P McHugh, M Wu, S O'Carroll, P Benny, I L Sin, F Y Sin

Research output: Contribution to journalArticle

85 Citations (Scopus)

Abstract

Single nucleotide polymorphisms (SNPs) in 7000 bp of the mitochondrial genome, encompassing 15 coding regions from COI to ND5, were characterized by single strand polymorphism analysis and confirmed by DNA sequencing. About 2.4% of normozoospermic men and 8.4% of men with poor semen quality had at least one nucleotide substitution. Most of the substitutions occurred in the third codon and did not change the amino acid. Hydrophobicity plots of the proteins with changes in an amino acid as a result of a nucleotide substitution suggested that they did not affect the function of the protein. The two most common substitutions at nucleotide (nt) 9055 and 11719 had significantly higher frequencies in men with reduced sperm motility. Eleven percent of the men with poor semen parameters and 1.3% of normozoospermic men had a 9055 substitution, 12% of the men with poor semen parameters had a substitution at nt 11719, but none of the normozoospermic men had this substitution. All the patients with these substitutions had reduced sperm motility and/or low sperm count. These SNPs in the mitochondrial genome were in a homoplasmic state. Thus, we propose that possessing these mitochondrial mutations compromises the semen quality of these men.

Original languageEnglish
Pages (from-to)175-82
Number of pages8
JournalInternational Journal of Andrology
Volume24
Issue number3
DOIs
Publication statusPublished - Jun 2001
Externally publishedYes

Fingerprint Dive into the research topics of 'High incidence of single nucleotide substitutions in the mitochondrial genome is associated with poor semen parameters in men'. Together they form a unique fingerprint.

  • Cite this