The effect of de novo mutations on human fitness and timing of reproduction

Jennifer Simma


Many studies have been performed evaluating the effects of de novo mutations in probands of studied individuals. The results of these studies can have great implications for genetic research and its applications to medicine. Important factors to be considered are the rate of de novo mutations and from which parental individual they are primarily derived. These de novo mutations are frequently evident phenotypically through conditions like autism and schizophrenia. This microreview addresses these considerations and provides new insight to today’s knowledge about the role of parental age and risk of genetic mutation. Recent generations have been waiting to have children until they attain stability in their career and finances, which means couples are having children at later ages than previous generations. In addition, divorce rates continue to rise as do the number of marriages between older men and younger women. As a result of the rise in mutation rate, corresponding with a rise in paternal age, the offspring of parents reproducing later in life are put at a greater risk for mutation. This creates a provoking question: by what age should we fulfill our reproductive capacities? Recent progress has been made in the discovery concerning which genes typically undergo mutation and lead to the aforementioned diseases. It also gives us the ability to identify biomarkers to aid physicians as they work to prevent the development of conditions to which patients are predisposed. This work could potentially have dramatic effects on health insurance companies and the amount of coverage they offer patients. Like most areas of science, there is still much more information to be discovered regarding de novo mutations. There is little data on mutation rate for older ages. In addition, no studies have been conducted to weigh the effects of environmental hazards and distress. Research in this area would further teach us the cause of de novo mutations along with how individuals phenotypically respond to different mutant forms.

Full Text:



  • There are currently no refbacks.