What physiological condition is Huntington disease linked to in neurons?

• A. Protein aggregation
• B. Cell proliferation
• C. Neuronal regeneration
• D. Synaptic transmission

Answer: (A)

Huntington disease is linked to protein aggregation in neurons, primarily due to the abnormal expansion of CAG repeats in the HTT gene, which encodes the huntingtin protein. In individuals with Huntington disease, the mutant huntingtin protein accumulates and forms inclusions within neurons. These aggregates disrupt normal cellular function, leading to neurodegeneration, particularly in areas of the brain responsible for movement, cognition, and emotion.

The presence of these protein aggregates is crucial in understanding the pathology of the disease, as they interfere with various cellular processes, including transcription and mitochondrial function, ultimately resulting in neuronal cell death. Recognizing the association between Huntington disease and protein aggregation underscores the importance of protein homeostasis in maintaining neuronal health and illustrates how misfolded proteins can lead to devastating neurological conditions.