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Review
. 2021 Oct 22;144(9):2610-2615.
doi: 10.1093/brain/awab161.

HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia

Edoardo Monfrini  1   2 , Michael Zech  3   4 , Dora Steel  5   6 , Manju A Kurian  5   6 , Juliane Winkelmann  3   4   7   8 , Alessio Di Fonzo  2
Affiliations
Review

HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia

Edoardo Monfrini et al. Brain. .

Abstract

The homotypic fusion and protein sorting (HOPS) complex is the structural bridge necessary for the fusion of late endosomes and autophagosomes with lysosomes. Recent publications linked mutations in genes encoding HOPS complex proteins with the aetiopathogenesis of inherited dystonias (i.e. VPS16, VPS41, and VPS11). Functional and microstructural studies conducted on patient-derived fibroblasts carrying mutations of HOPS complex subunits displayed clear abnormalities of the lysosomal and autophagic compartments. We propose to name this group of diseases HOPS-associated neurological disorders (HOPSANDs), which are mainly characterized by dystonic presentations. The delineation of HOPSANDs further confirms the connection of lysosomal and autophagic dysfunction with the pathogenesis of dystonia, prompting researchers to find innovative therapies targeting this pathway.

Keywords: HOPS; HOPSANDs; autophagy; dystonia genetics; lysosome.

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