July 20, 2011

expert reaction to study showing detrimental effects of a common genetic mutation in sperm

The study revealed detrimental effects on sperm function and fertility.

Dr Allan Pacey, Senior Lecturer in Andrology at the University of Sheffield, said:

“We actually understand very little about the subtle molecular events which occur in sperm as they make their journey through the woman’s body to fertilise an egg. We know even less about how a man’s genes may contribute to how his sperm work, in the absence of an obvious defect that we can see down the microscope. Therefore, this paper is an important step forward and makes a significant contribution to our sperm-knowledge.

“The techniques we use in the laboratory to assess human sperm have remained largely unchanged since the 1950’s. Although many scientists have been searching for newer and better tests, none have so far been developed and entered main-stream clinical use. I would argue that there is a clinical need for new and better lab tests either to complement or replace what we do currently.

“Although I doubt that testing for this genetic defect on its own will change clinical practice, in combination with other test information it may one day help guide doctors to suggest a couple start assisted conception treatment earlier than they might otherwise have done.

“Given that in this study even some men who carried two defective copies of the gene went on to father children naturally, I wouldn’t be surprised if a relatively simple treatment like Intra-uterine insemination was an effective solution for them, rather than jumping straight to ICSI as the authors suggest in their press release.”

‘A Common Mutation in the Defensin DEFB126 Causes Impaired Sperm Function and Subfertility’ by Theodore Tollner et al., published in Science Translational Medicine on Wednesday 20 July 2011.