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Huntington Disease l: Introduction

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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 reduced penetrance,...

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Related Experiment Video

Updated: May 28, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

Huntington's disease: from gene to potential therapy.

H Lehrach¹, E E Wanker

¹Max-Planck-lnstitut für Molekulare Genetik, Berlin (Dahlem), Germany.

Dialogues in Clinical Neuroscience

|October 29, 2011

Summary

Huntington's disease (HD) research explores its genetic cause and molecular mechanisms. Studies using in vivo and in vitro models aim to develop treatments for this progressive neurodegenerative disorder.

Keywords:

Huntington's disease aggregation fibrillogenesis neurodegeneration polyglutamine

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Last Updated: May 28, 2026

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Area of Science:

Neuroscience
Genetics
Molecular Biology

Background:

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder affecting 1 in 10,000 individuals.
It is caused by a polyglutamine repeat expansion in the huntingtin protein, leading to neuronal dysfunction and cell death.
The precise molecular mechanisms and normal huntingtin function remain largely unknown, with no current therapies available.

Purpose of the Study:

To elucidate the pathogenetic mechanisms of Huntington's disease.
To identify potential therapeutic strategies for preventing or slowing disease progression.
To present new research findings focusing on HD models and molecular mechanisms.

Main Methods:

Utilizing in vivo and in vitro model systems to study Huntington's disease.
Investigating the molecular mechanisms underlying neuronal dysfunction and cell death in HD.
Exploring potential therapeutic interventions for Huntington's disease.

Main Results:

New research results on Huntington's disease are presented.
Focus on findings from in vivo and in vitro model systems.
Exploration of potential molecular mechanisms and therapeutic strategies.

Conclusions:

Understanding HD pathogenesis is crucial for developing effective treatments.
Further research using model systems is essential for advancing HD therapies.
Developing treatments to prevent or slow HD symptoms is a key goal.