Department of Medical Biology, Amsterdam UMC, location AMC, Amsterdam, The Netherlands.
Department of Biochemistry, Erasmus University Medical Center, Rotterdam, The Netherlands.
J Huntingtons Dis. 2021;10(3):335-347. doi: 10.3233/JHD-210476.
Huntington's disease is a neurodegenerative disorder caused by a CAG expansion in the huntingtin gene, resulting in a polyglutamine expansion in the ubiquitously expressed mutant huntingtin protein.
Here we set out to identify proteins interacting with the full-length wild-type and mutant huntingtin protein in the mice cortex brain region to understand affected biological processes in Huntington's disease pathology.
Full-length huntingtin with 20 and 140 polyQ repeats were formaldehyde-crosslinked and isolated via their N-terminal Flag-tag from 2-month-old mice brain cortex. Interacting proteins were identified and quantified by label-free liquid chromatography-mass spectrometry (LC-MS/MS).
We identified 30 interactors specific for wild-type huntingtin, 14 interactors specific for mutant huntingtin and 14 shared interactors that interacted with both wild-type and mutant huntingtin, including known interactors such as F8a1/Hap40. Syt1, Ykt6, and Snap47, involved in vesicle transport and exocytosis, were among the proteins that interacted specifically with wild-type huntingtin. Various other proteins involved in energy metabolism and mitochondria were also found to associate predominantly with wild-type huntingtin, whereas mutant huntingtin interacted with proteins involved in translation including Mapk3, Eif3h and Eef1a2.
Here we identified both shared and specific interactors of wild-type and mutant huntingtin, which are involved in different biological processes including exocytosis, vesicle transport, translation and metabolism. These findings contribute to the understanding of the roles that wild-type and mutant huntingtin play in a variety of cellular processes both in healthy conditions and Huntington's disease pathology.
亨廷顿病是一种神经退行性疾病,由亨廷顿基因中的 CAG 扩展引起,导致广泛表达的突变亨廷顿蛋白中的聚谷氨酰胺扩展。
本研究旨在鉴定与小鼠皮质脑区全长野生型和突变型亨廷顿蛋白相互作用的蛋白质,以了解亨廷顿病病理学中受影响的生物学过程。
用甲醛交联全长带有 20 和 140 个聚谷氨酰胺重复的亨廷顿蛋白,并通过其 N 端 Flag 标签从 2 个月大的小鼠大脑皮质中分离出来。通过无标记液相色谱-质谱联用(LC-MS/MS)鉴定和定量相互作用蛋白。
我们鉴定了 30 个与野生型亨廷顿蛋白特异性相互作用的相互作用蛋白,14 个与突变型亨廷顿蛋白特异性相互作用的相互作用蛋白,以及 14 个与野生型和突变型亨廷顿蛋白都相互作用的共同相互作用蛋白,包括已知的相互作用蛋白,如 F8a1/Hap40。与囊泡运输和胞吐作用有关的 Syt1、Ykt6 和 Snap47 等蛋白是与野生型亨廷顿蛋白特异性相互作用的蛋白之一。还发现各种其他与能量代谢和线粒体有关的蛋白主要与野生型亨廷顿蛋白相关,而突变型亨廷顿蛋白与参与翻译的蛋白相互作用,包括 Mapk3、Eif3h 和 Eef1a2。
本研究鉴定了野生型和突变型亨廷顿蛋白的共同和特异性相互作用蛋白,它们参与了不同的生物学过程,包括胞吐作用、囊泡运输、翻译和代谢。这些发现有助于理解野生型和突变型亨廷顿蛋白在各种细胞过程中的作用,包括在健康状态和亨廷顿病病理学中。