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Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

110
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
110

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Scn4b Modulates Huntington's Disease Phenotype Severity in vivo.

Suphinya Sathitloetsakun, Vanessa Farrell, S Sebastian Pineda

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    Huntington's disease (HD) involves the HTT gene, but neuron loss remains unclear. This study reveals SCN4B gene loss contributes to HD, while its overexpression rescues HD symptoms and improves neuron function, suggesting SCN4B as a therapeutic target.

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    Area of Science:

    • Neuroscience
    • Genetics
    • Molecular Biology

    Background:

    • Huntington's disease (HD) is caused by CAG trinucleotide repeat expansions in the HTT gene.
    • The precise mechanisms leading to neuronal cell loss in HD, particularly striatal spiny projection neurons (SPNs), are not fully understood.

    Purpose of the Study:

    • To investigate the role of the SCN4B gene in Huntington's disease pathogenesis.
    • To explore SCN4B as a potential therapeutic target for HD.

    Main Methods:

    • Utilized mouse models (wild-type and HD) to study SCN4B function in vivo.
    • Employed single nucleus RNA sequencing (snRNA-seq) to analyze gene expression changes in the striatum.
    • Assessed motor and cognitive deficits, and SPN electrophysiological properties.

    Main Results:

    • Loss of SCN4B in wild-type mice mimicked HD-associated phenotypes.
    • Overexpression of SCN4B in an HD mouse model rescued motor and cognitive deficits.
    • Loss of SCN4B replicated HD-associated gene expression signatures, while SCN4B overexpression rescued these signatures and improved SPN electrophysiology.

    Conclusions:

    • Reduced SCN4B expression is implicated as a significant contributor to HD pathogenesis.
    • SCN4B modulation presents a potential therapeutic strategy for Huntington's disease.