Semen levels of mitochondrial DNA deletions in men attending an infertility clinic do not correlate with phenotype

Abstract

In view of previous reports associating mitochondrial DNA deletions with male reproductive disorders, levels of the 'common' 4977 bp mitochondrial DNA deletion were evaluated semi-quantitatively in 64 men, without prior knowledge of the clinical diagnosis. Significant levels of deletions were detected in 34/64 men (53%) but 29 of these (45%) had a normal semen profile and were phenotypically normal. No deletions were detected in 30 men, of whom 21 were normospermic, six were oligozoospermic and three were azoospermic. It is concluded that although mitochondrial DNA deletions within the testis may be associated with primary testicular disease, no correlation with semen quality was evident in this study, thus limiting its potential use as a diagnostic test.