Department of Pharmacy, University of Napoli Federico II, Via D. Montesano 49, 80131, Napoli, Italy.
Department of Medical, Surgical, Neurological, Metabolic Sciences, and Aging, 2nd Division of Neurology, Center for Rare Diseases, University of Campania "Luigi Vanvitelli", Napoli, Italy; InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Napoli, Italy.
Neuropharmacology. 2018 Jun;135:126-138. doi: 10.1016/j.neuropharm.2018.03.009. Epub 2018 Mar 8.
Huntington's disease is a dreadful, incurable disorder. It springs from the autosomal dominant mutation in the first exon of the HTT gene, which encodes for the huntingtin protein (HTT) and results in progressive neurodegeneration. Thus far, all the attempted approaches to tackle the mutant HTT-induced toxicity causing this disease have failed. The mutant protein comes with the aberrantly expanded poly-glutamine tract. It is primarily to blame for the build-up of β-amyloid-like HTT aggregates, deleterious once broadened beyond the critical ∼35-37 repeats threshold. Recent experimental findings have provided valuable information on the molecular basis underlying this HTT-driven neurodegeneration. These findings indicate that the poly-glutamine siding regions and many post-translation modifications either abet or counter the poly-glutamine tract. This review provides an overall, up-to-date insight into HTT biophysics and structural biology, particularly discussing novel pharmacological options to specifically target the mutated protein and thus inhibit its functions and toxicity.
亨廷顿病是一种可怕的、无法治愈的疾病。它源于 HTT 基因第一外显子的常染色体显性突变,该基因编码 huntingtin 蛋白 (HTT),导致进行性神经退行性变。到目前为止,所有试图解决这种疾病的突变 HTT 诱导毒性的方法都失败了。突变蛋白带有异常扩展的多谷氨酰胺片段。它主要是造成β-淀粉样 HTT 聚集物的积累,一旦超过临界的约 35-37 个重复阈值,就会产生有害影响。最近的实验发现为 HTT 驱动的神经退行性变的分子基础提供了有价值的信息。这些发现表明,多谷氨酰胺侧链区域和许多翻译后修饰要么促进要么抑制多谷氨酰胺片段。这篇综述提供了对 HTT 生物物理学和结构生物学的全面、最新的见解,特别是讨论了专门针对突变蛋白的新型药理学选择,从而抑制其功能和毒性。