In Sweden, researchers from the Karolinska Institutet (source 1) have analyzed semen samples to determine how well they were able to indicate certain genetic variants.
Specifically, the team compared blood and semen samples from healthy parents and children with genetic syndromes. This analysis indicates that “germline mosaicism is underestimated as a cause of syndromes and that the level of the genetic variant is higher in sperm than in blood”. These findings were published in Molecular Genetics & Genomic Medicine.
The researchers compare this finding to a bathroom mosaic, human cells can look and behave differently from each other. “One explanation for this is the genetic mosaicism and means that there is more than one genetic makeup in the same individual,” the study summarizes.
Compare blood and semen
In this study, researchers looked for germline mosaicism in 87 healthy parents of children diagnosed with genetic syndromes. Scientists have identified mosaicism in two healthy fathers by studying blood and semen. “Comparing blood and semen, they also found that the level of mosaicism was higher in semen than in blood either way,” the authors report.
“Understanding the mechanisms behind a rare disease is the key to establishing appropriate care, such as monitoring and treatment. It also improves genetic counseling for patients and their parents regarding the risk of recurrence”, concludes Sofia Frisk, clinical genetics Karolinska Institutet. Analyzes that could help scientists decide which is the most relevant tissue to analyze.