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Related Experiment Video

Updated: Aug 9, 2025

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

Subtyping monogenic disorders: Huntington disease.

Andrea Sturchio¹, Andrew P Duker², Ignacio Muñoz-Sanjuan³

¹James J. and Joan A. Gardner Family Center for Parkinson's disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH, United States; Department of Clinical Neuroscience, Neuro Svenningsson, Karolinska Institutet, Stockholm, Sweden.

Handbook of Clinical Neurology

|February 21, 2023

Summary

This summary is machine-generated.

Huntington disease involves genetic mutations causing toxic protein aggregation and loss of essential huntingtin protein function. Understanding diverse biological pathways is key to developing targeted Huntington disease therapies.

Keywords:

Alzheimer's disease Dementia Movement disorders Neurodegeneration Parkinson's disease Phenoconversion Precision medicine Prodrome

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Last Updated: Aug 9, 2025

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Published on: December 10, 2021

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Published on: June 27, 2018

Area of Science:

Neuroscience
Genetics
Molecular Biology

Background:

Huntington disease (HD) is a severe neurodegenerative disorder affecting psychiatric, cognitive, and motor functions.
It stems from a genetic mutation in the huntingtin (HTT) gene, causing an expanded polyglutamine tract.
The exact toxicity mechanism remains unclear, with current hypotheses focusing on mutant huntingtin (mHTT) aggregation.

Approach:

This analysis reviews the current understanding of HD pathogenesis, including the role of HTT aggregation.
It explores alternative hypotheses, such as the loss of wild-type HTT function.
The study also considers the involvement of other biological pathways like autophagy and mitochondrial function.

Key Points:

The expansion of polyglutamine repeats (>39) in the HTT gene is directly linked to Huntington disease.
While mHTT aggregation is a hallmark, the reduction in wild-type HTT levels may also contribute to neurodegeneration.
Aberrant pathways beyond HTT, including autophagic and mitochondrial dysfunction, contribute to HD's complexity.

Conclusions:

The traditional 'one-gene, one-disease' model may be insufficient for Huntington disease.
Identifying distinct HD subtypes based on altered biological pathways is crucial.
Tailored therapeutic strategies targeting specific pathways, rather than solely HTT aggregation, are needed for effective HD treatment.