New York: Researchers have identified a protein mutation in some males before birth that can lead to the development of testicular cancer as well as other less life-threatening challenges.
The discovery marks the latest in a series of findings related to the protein SRY (sex-determining region on the Y chromosome) that serves as a master switch for ensuring human male maturation.
In some cases, however, the mutation prevents the protein from folding properly and, in turn, impairs the protein’s ability to direct the appropriate development of testes tissues.
Even worse, the tissue defects in the original patient identified with this mutation also contribute to the development of testicular (gonadal) cancer.
“The mutation occurs in a strategic part of the SRY protein,” said biochemistry doctoral student Joseph Racca from Ohio-based Case Western Reserve University.
The researchers now seek to exploit the SRY database and its evolutionary linkages to explore applications to stem-cell biology and cancer.
The findings appeared in the Journal of Biological Chemistry.