Oxford scientists have for the first time been able to identify the origins of some severe disease-causing mutations within the testicles of normal men. This discovery will help our understanding of how certain serious genetic disorders can occur in the offspring of healthy parents, who do not themselves have the genetic defect. The research is published in the journal PNAS.
Older fathers - finding the enemy inside their testicles
9 February 2016
Research by Prof Andrew Wilkie and Prof Anne Goriely, published in PNAS, has identified the origins of some severe disease-causing mutations within the testicles of normal men. Particular mutations in the FGFR2 gene and a few other disease genes enable the mutated spermatogonia to produce not just sperm but extra copies of themselves, reproducing and spreading faster than the surrounding normal spermatogonia. This tumour-like growth means that over time, a greater proportion of sperm being produced carry disease-causing mutations, increasing the risk of fathering a child with a serious condition.