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Description

Huntingtin (UniProt P42858, also known as HD protein, Huntington disease protein) is encoded by the HTT (also known as HD, IT15) gene (Gene ID 3064) in human. Misfolding and self-aggregation of specific proteins are a common feature of well known neurodegenerative diseases, including Huntington s disease (HD), Alzheimer s disease (AD), Parkinson s disease (PD), and amyotrophic lateral sclerosis (AML). Abnormal polyglutamine (polyQ) repeat sequence or stretch result in protein misfolding and neurodegeneration. HD, for example, is caused by polyQ expansion in the first exon-coded sequence of the causal protein Huntingtin (Htt exon 1). The expanded polyQ leads to formation of beta-sheet rich fibrillar aggregates called amyloid. Eight proteins containing polyQ tracts, but otherwise unrelated to htt, also result in protein misfolding and neurodegeneration upon polyQ expansion. Growing evidences implicate soluble oligomers or even monomers of disease-causing amyloid proteins as the more toxic species. In HD, formation of the end-stage, very large aggregated species of mutant htt (mHtt), termed an inclusion bodies (IBs), is believed to be a coping response to sequester toxic species of monomeric or small oligomeric mHtt, which are distributed diffusely throughout the neuron.