Researchers led by University of Montreal scientists discovered
how new or de novo gene mutations — alterations of the cell’s
DNA — play a role in these devastating conditions. New (de novo)
mutations are alterations of the cell’s DNA that can occur
because of errors in the DNA replication, which happen prior to
cell division. Once DNA is changed, this mutation is passed down
to a next generation. These de novo mutations are newly formed
within each individual, and are not inherited from either
parent. The study, which has implications for disease prevalence
and severity, is published in the American Journal of Human
Genetics. “This study emphasizes the importance of de novo
mutations as genetic factors predisposing to autism and
schizophrenia. We found an increased frequency of severe de novo
mutations in critical brain genes in both of these diseases,”
says senior author and University of Montreal professor Guy
Rouleau. “Harmful de novo mutations, as observed in this study,
may in part explain the high glob