Mutations in the sperm of older men can be passed on to their children and cause health problems , such as heart disease or autism, according to a new study by researchers from the Rady Institute of Genomic Medicine for Children and the School of Medicine. of the University of California in San Diego and that collects the Cell magazine.
Experts found that 1 in 15 men, particularly older men, are at higher risk of passing negative mutations to their children than younger men. The cell mutation, known as mosaicism (where different cells in the same person have different genetic makeup), occurs in almost everyone. However, if the abnormal cells outnumber the normal cells, disease can develop.
Autism spectrum disorder (ASD) is a developmental disorder in which patients have difficulty communicating and behaving. It covers several conditions, including autism and Asperger’s syndrome, and symptoms can range from mild to severe.
“Surprisingly, the comparison between older and younger men showed little difference in mutations, which tells us that these mutations probably arose when the father was an embryo, where the mutations could remain undetected until the man has children.” says Martin Breuss, study leader.
The researchers also found that mutations are likely to occur in single sperm cells, which are currently below detection levels. They sequenced multiple samples hundreds of times through their genomes to find that the mutations were only in a small number of cells. “We found that each ejaculation of a man shows an average of 30 mutations,” added Xiaoxu Yang, a co-author of the study.
“Almost all of these were found in serial samples over a period of six to 12 months, while most of the mutations were completely absent in a saliva or blood sample.” The data indicate that the mutations are restricted to sperm and also validate their detection method.
Referencia: Developmental and temporal characteristics of clonal sperm mosaicism
Xiaoxu Yang Martin W. Breuss Xin XuYan DingJonathan Sebat Joseph G. Gleeson
Published:August 12, 2021DOI:https://doi.org/10.1016/j.cell.2021.07.024
