The discovery could aid in the investigation of human genetics and a range of complex diseases.
Researchers from the Wellcome Sanger Institute, the University of Cambridge and AstraZeneca have uncovered new insights into a “genetic abnormality” that is widespread in healthy populations.
This study American Journal of Human Genetics It could shed light on how the human genetic code works and help investigate a range of complex diseases.
The genetic abnormality occurs when a gene becomes active when it should normally be switched off, and has previously been linked to several rare disorders, including congenital limb syndrome.
Approximately 19,900 genes make up the human genome and form part of our body’s instruction manual, coding for proteins needed to carry out cellular functions.
Proper gene regulation occurs when these genetic instructions are turned on or off as needed, in response to a cell’s specific role or environmental factors – failure to do so can interfere with normal cellular function.
The researchers used advanced RNA sequencing technology to analyze blood samples from 4,568 healthy people as part of the INTERVAL study to measure gene activity, as well as perform whole-genome sequencing to identify the genetic changes behind irregular gene activity.
They found that 96% of samples had some misexpression, with more than half of normally inactive genes showing misexpression.
“This suggests that if these essential genes are misexpressed, the impacts on health and disease are likely to be more severe,” explained study author Dr Katie Burnham of Wellcome Sanger.
Furthermore, the research team identified several mechanisms behind these gene activity errors, including rare structural changes in DNA, which could inform precision medicine approaches and enable the development of targeted therapies to correct expression.
The findings of this study will provide a valuable tool to further explore the complexities of human genetics and disease and may aid in the development of diagnostics and treatments for diseases caused by misexpression.
First author of the study, Thomas Vanderstishell of Wellcome Sanger, commented: “Our research shows that ‘abnormal’ gene activity is much more common than previously thought… This is a major step towards more personalized medicine, allowing us to understand the full range of influences that genes have on our health in a more comprehensive way.”
