Recent research from Columbia University has revealed that certain cells can selectively inactivate one parent’s gene copy, challenging traditional genetics’ understanding that both copies contribute equally to cellular function. This finding provides insight into why some individuals with disease-causing mutations remain symptom-free, despite sharing the same genetic makeup as those who are affected. The study shows that immune cells, in particular, tend to preferentially inactivate either the maternal or paternal gene copy in nearly 5% of the genes they express. Such selective bias could explain the variability in disease severity among individuals with similar genetic predispositions, particularly in conditions like lupus and certain cancers.
This research suggests a need to expand the understanding of genetic diseases to consider patients’ “transcriptotypes,” or gene activity patterns, alongside genotypes. The potential to manipulate gene expression could lead to novel treatments that suppress undesirable gene copies, transforming genetic diseases into non-diseases. Although clinical applications are still distant, the findings open new avenues for diagnosing and treating inherited conditions. Dusan Bogunovic, the study’s lead, emphasizes that understanding these mechanisms could significantly impact the future of genetic disease management, marking a shift in how researchers approach treatment strategies.
