What is Huntington's disease biochemical pathway?

Answer 1

Huntington's disease (HD) is primarily caused by the expansion of CAG repeats in the HTT gene, leading to the production of a mutant huntingtin protein. This abnormal protein aggregates and disrupts various cellular processes, including transcription regulation, mitochondrial function, and proteostasis, ultimately resulting in neuronal cell death. The accumulation of mutant huntingtin also affects the ubiquitin-proteasome system and contributes to neuroinflammation. These biochemical disruptions manifest in the characteristic motor, cognitive, and psychiatric symptoms of HD.