Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1

Lin, Xi; Antalffy, Barbara; Kang, Dongcheul; Orr, Harry T.; Zoghbi, Huda Y.

doi:10.1038/72101

Cited by 374Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental DisordersGenetic factors in colorectal cancer

Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1

Lin, Xi, Antalffy, Barbara, Kang, Dongcheul, Orr, Harry T., Zoghbi, Huda Y.·2000·Nature Neuroscience

DOI 10.1038/72101

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Abstract

The expansion of an unstable CAG repeat causes spinocerebellar ataxia type 1 (SCA1) and several other neurodegenerative diseases. How polyglutamine expansions render the resulting proteins toxic to neurons, however, remains elusive. Hypothesizing that long polyglutamine tracts alter gene expression, we found certain neuronal genes involved in signal transduction and calcium homeostasis sequentially downregulated in SCA1 mice. These genes were abundant in Purkinje cells, the primary site of SCA1 pathogenesis; moreover, their downregulation was mediated by expanded ataxin-1 and occurred before detectable pathology. Similar downregulation occurred in SCA1 human tissues. Altered gene expression may be the earliest mediator of polyglutamine toxicity.

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Alterations in gene expression is the earliest pathological finding in SCA1 disease.
“alterations in gene expression is the earliest pathological finding in SCA1 disease (Lin et al., 2000; Serra et al., 2004; Cvetanovic et al., 2007; Crespo-Barreto et al., 2010; Cvetanovic et al., 2011; Fryer et al., 2011)”
From Polyglutamine Disease Toxicity Is Regulated by Nemo-like Kinase in Spinocerebellar Ataxia Type 1 (2013) · cites this paper as Lin et al., 2000
This transcriptional activity is important for the pathogenesis of SCA1.
“This transcriptional activity is important for the pathogenesis of SCA1 (Lin et al., 2000; Serra et al., 2004; Lam et al., 2006; Cvetanovic et al., 2007; Crespo-Barreto et al., 2010; Cvetanovic et al., 2011; Fryer et al., 2011).”
From Polyglutamine Disease Toxicity Is Regulated by Nemo-like Kinase in Spinocerebellar Ataxia Type 1 (2013) · cites this paper as Lin et al., 2000

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Authors: Lin, X., Antalffy, B., Kang, D., Orr, H. T., & Zoghbi, H. Y.
Affiliations: Howard Hughes Medical Institute (US)
Baylor College of Medicine (US)
University of Minnesota (US)
Corresponding author: Zoghbi, Huda Y.
ORCID: Orr, Harry T.
Zoghbi, Huda Y.
Venue: Nature Neuroscience
Publisher: Springer Science and Business Media LLC
Published: 2000-02
Volume: 3
Issue: 2
Pages: 157-163
ISSN: 1097-6256 (ISSN-L)
1546-1726
DOI: 10.1038/72101
OpenAlex: W2043888873
Cited by: 374
References: 48
Citations by year: 2026: 3 · 2025: 2 · 2024: 4 · 2023: 6 · 2022: 11 · 2021: 11 · 2020: 9 · 2019: 4 · 2018: 9 · 2017: 10 · 2016: 13 · 2015: 8 · 2014: 11 · 2013: 11 · 2012: 18
FWCI: 14.70
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Neuroscience (publishedVersion)
PubMed (publishedVersion)
Funders: National Institute of Neurological Disorders and Stroke (NS 27699, NS-22920)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Keywords: spinocerebellar ataxia type 1, polyglutamine expansion, CAG repeat expansion, ataxin-1, Purkinje cells, gene downregulation, signal transduction, calcium homeostasis, neurodegeneration, polyglutamine toxicity
MeSH terms: Ataxins, Ataxin-1, Inositol Polyphosphate 5-Phosphatases, Calcium-Transporting ATPases, alpha 1-Antichymotrypsin, Animals, Brain, Cloning, Molecular, Disease Models, Animal, Gene Expression Regulation, Humans, Mice, Transgenic, Molecular Sequence Data, Nerve Tissue Proteins, Neurons, Nuclear Proteins, Organ Specificity, Peptides, Phosphoric Monoester Hydrolases, Protein Methyltransferases, Purkinje Cells, RNA, Messenger, Calcium Channels, Signal Transduction, Down-Regulation, Receptors, Glutamate, Receptors, Cytoplasmic and Nuclear, Trinucleotide Repeat Expansion, Spinocerebellar Ataxias, Amino Acid Transport System X-AG, Symporters, TRPC Cation Channels, Glutamate Plasma Membrane Transport Proteins, Mice, Inositol 1,4,5-Trisphosphate Receptors

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Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1

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