6. Genetic Modifiers: Hidden Puppeteers
While the CAG repeat mutation is the driving force behind Huntington’s disease, it doesn’t act alone. Recent research has identified other genes – known as genetic modifiers – that can influence the disease’s onset and progression.
These modifier genes don’t cause Huntington’s disease – that’s solely down to the HTT gene mutation. Instead, they can affect how and when the disease manifests in those who have the mutation. Some genetic modifiers might delay the onset of symptoms, while others might accelerate the disease progression.
Understanding these genetic modifiers offers hope for future therapeutic interventions. If we can pinpoint how these genes influence Huntington’s disease, we might be able to develop treatments that mimic their effects, potentially slowing the disease progression or delaying its onset.
The discovery of genetic modifiers underscores that while Huntington’s disease is caused by a single gene mutation, its development and progression are influenced by a complex interplay of genetic factors, each playing its part in the unfolding narrative of the disease. (6)
