What Causes Huntington's Disease?
Huntington's disease (HD) is a genetic disorder that is primarily caused by a mutation in the HTT gene, responsible for encoding a protein called huntingtin. This mutation leads to an abnormal expansion of CAG repeats in the gene, resulting in the production of a dysfunctional huntingtin protein. The presence of this mutated protein causes progressive neurodegeneration in the brain, particularly affecting the basal ganglia, which is crucial for movement and coordination.
Huntington's disease follows an autosomal dominant inheritance pattern, meaning that an individual only needs one copy of the mutated gene from one parent to develop the disease. There is a 50% chance that an affected parent will pass on the mutated gene to their offspring. As a result, the disorder can manifest in subsequent generations, with possible variations in the age of onset and severity of symptoms.
While genetic factors are the primary causes of Huntington's disease, environmental factors may also play a role in the progression of the disease. Research continues to explore how certain lifestyle and environmental components might influence the severity and onset of symptoms in those carrying the mutated gene.
Currently, there is no cure for Huntington's disease, and management focuses on alleviating symptoms and improving quality of life. Ongoing studies aim to better understand the underlying mechanisms of the disease and develop potential therapeutic strategies.