Huntington's Disease and HTT Gene Mutations _ Genome Disfunction Review

Huntington's Disease (HD) is an autosomal dominant neurodegenerative disorder caused by CAG trinucleotide repeat expansions in the HTT (huntingtin) gene. The disease manifests with progressive motor dysfunction, cognitive decline, and psychiatric disturbances, typically beginning in mid-adulthood. This article explores the genetic basis of HD, its pathological features, and advancements in therapeutic approaches, including gene-silencing strategies and symptom-targeted treatments. Ongoing research into molecular mechanisms and clinical interventions holds promise for improved management and potential disease-modifying therapies.

Publication Details

Journal
Figshare
Published
2024-12-11
DOI
https://doi.org/10.6084/m9.figshare.28004441
Primary Topic
Mycorrhizal Fungi and Plant Interactions
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article
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Huntington's Disease and HTT Gene Mutations _ Genome Disfunction Review

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Mycorrhizal Fungi and Plant Interactions
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Huntington's Disease and HTT Gene Mutations _ Genome Disfunction Review

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Abstract

Huntington's Disease (HD) is an autosomal dominant neurodegenerative disorder caused by CAG trinucleotide repeat expansions in the HTT (huntingtin) gene. The disease manifests with progressive motor dysfunction, cognitive decline, and psychiatric disturbances, typically beginning in mid-adulthood. This article explores the genetic basis of HD, its pathological features, and advancements in therapeutic approaches, including gene-silencing strategies and symptom-targeted treatments. Ongoing research into molecular mechanisms and clinical interventions holds promise for improved management and potential disease-modifying therapies.

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