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@ARTICLE{Heinz:162830,
author = {Heinz, Annika and Schilling, Judith and van Roon-Mom,
Willeke and Krauß, Sybille},
title = {{T}he {MID}1 {P}rotein: {A} {P}romising {T}herapeutic
{T}arget in {H}untington's {D}isease.},
journal = {Frontiers in genetics},
volume = {12},
issn = {1664-8021},
address = {Lausanne},
publisher = {Frontiers Media},
reportid = {DZNE-2021-01485},
pages = {761714},
year = {2021},
note = {(CC BY)},
abstract = {Huntington's disease (HD) is caused by an expansion
mutation of a CAG repeat in exon 1 of the huntingtin (HTT)
gene, that encodes an expanded polyglutamine tract in the
HTT protein. HD is characterized by progressive psychiatric
and cognitive symptoms associated with a progressive
movement disorder. HTT is ubiquitously expressed, but the
pathological changes caused by the mutation are most
prominent in the central nervous system. Since the mutation
was discovered, research has mainly focused on the mutant
HTT protein. But what if the polyglutamine protein is not
the only cause of the neurotoxicity? Recent studies show
that the mutant RNA transcript is also involved in cellular
dysfunction. Here we discuss the abnormal interaction of the
mutant HTT transcript with a protein complex containing the
MID1 protein. MID1 aberrantly binds to CAG repeats and this
binding increases with CAG repeat length. Since MID1 is a
translation regulator, association of the MID1 complex
stimulates translation of mutant HTT mRNA, resulting in an
overproduction of polyglutamine protein. Thus, blocking the
interaction between MID1 and mutant HTT mRNA is a promising
therapeutic approach. Additionally, we show that MID1
expression in the brain of both HD patients and HD mice is
aberrantly increased. This finding further supports the
concept of blocking the interaction between MID1 and mutant
HTT mRNA to counteract mutant HTT translation as a valuable
therapeutic strategy. In line, recent studies in which
either compounds affecting the assembly of the MID1 complex
or molecules targeting HTT RNA, show promising results.},
keywords = {Alzheimer’s disease (Other) / CAG repeat (Other) /
Huntington’s disease (Other) / MID1 (Other) / RNA-protein
interaction (Other) / RNA-targeting drug (Other) / mRNA
translation (Other)},
cin = {AG Krauß},
ddc = {570},
cid = {I:(DE-2719)1011006},
pnm = {352 - Disease Mechanisms (POF4-352)},
pid = {G:(DE-HGF)POF4-352},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:34659371},
pmc = {pmc:PMC8517220},
doi = {10.3389/fgene.2021.761714},
url = {https://pub.dzne.de/record/162830},
}