These Mutations May Potentially Cause 15% of ASD cases and Other Diseases
Mosaicism is a condition in which a person has two or more genetically different sets of cells in their body. Every human experiences some level of mosaicism, but most of the time the condition is undetectable. However, when mosaicism occurs in sperm or eggs, the mutations can affect not only the man or woman with the mutation but their offspring as well. A new study out of the Rady Children’s Institute of Genomic Medicine and University of California San Diego School of Medicine investigated mosaicism and found new ways for observing and counting these mutations. The UCSD research team believes their new data could be used to predict the likely impact of these mutations on future children. One of the biggest takeaways from this study is that one in 15 men is likely to carry mutations in their sperm that could negatively affect their offspring. The study design of this research involved comparing sperm from older men with younger men to determine any differences in mutations. Unlike previous research, the authors of this study found few differences in sperm mutations between the old and young cohorts. They believe this indicates that the observed mutations occurred when the father was an embryo, where the mutation could reside undetected until the man had children. Additionally, the study’s authors maintain that these mutations contribute to a substantial burden on human health and may be responsible for causing 15% of autism cases, congenital heart disease, and severe pediatric diseases. The research team is hopeful that they may be able to identify men at risk of this condition thus avoiding future cases of these diseases. For future research, the authors want to focus on environmental exposures associated with sperm mutations in older men. They are also recruiting families where a child has a disease due to a new mutation and where the father can donate a sperm sample so the team can look for evidence of that mutation.
