Abstract
Formation of intracellular mutant Huntingtin (mHtt) aggregates is a hallmark of Huntington’s disease (HD). The mechanisms underlying mHtt aggregation, however, are still not fully understood. A few recent studies indicated mHtt undergoes phase transition, bringing new clues to understand how mHtt aggregates assemble. Here in this mini review, we will summarize these findings with a focus on the factors that affect mHtt phase transition. We will also discuss the possible pathological roles of mHtt phase separation in HD.
Highlights
Huntington’s disease (HD) is a genetic neurodegenerative disease caused by expanded CAG triplet repeats in the first exon of HTT gene (MacDonald et al, 1993)
A biological hallmark of HD is the formation of intracellular insoluble protein aggregates found in the brains of affected patients (DiFiglia et al, 1997; Becher et al, 1998; Gutekunst et al, 1999)
In vivo and in vitro studies in the past two decades confirmed that these aggregates are composed of mutant Huntingtin alone or together with other proteins [reviewed in Arrasate and Finkbeiner (2012) and JimenezSanchez et al (2017)]
Summary
Huntington’s disease (HD) is a genetic neurodegenerative disease caused by expanded CAG triplet repeats in the first exon of HTT gene (MacDonald et al, 1993). Several studies carried out in vitro in yeast and mammalian cells indicated that the formation of mHtt assemblies is mediated by phase separation and phase transition (Peskett et al, 2018; Posey et al, 2018; Aktar et al, 2019). A few recent studies indicate that mHtt undergoes phase transition to form higher-ordered assemblies, both in vitro and in cells.
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