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Huntington Disease l: Introduction

Huntington Disease l: Introduction

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: Jul 1, 2026

Real-time Imaging of Axonal Transport of Quantum Dot-labeled BDNF in Primary Neurons

Real-time Imaging of Axonal Transport of Quantum Dot-labeled BDNF in Primary Neurons

Published on: September 15, 2014

Wild-type huntingtin in neurodevelopment.

Laura Lynn Chan¹, Blair R Leavitt¹

¹Department of Medical Genetics and Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia Vancouver, Vancouver, Canada.

Journal of Huntington'S Disease

|April 9, 2026

Summary

This summary is machine-generated.

This review explores the normal functions of the huntingtin (HTT) gene, separate from its role in Huntington's disease. Understanding wild-type HTT in neurodevelopment is crucial for developing effective Huntington's disease therapies.

Keywords:

ciliogenesis huntington's disease lopes-Maciel-Rodan Syndrome neurodevelopment neurogenesis wild-type huntingtin

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Last Updated: Jul 1, 2026

Real-time Imaging of Axonal Transport of Quantum Dot-labeled BDNF in Primary Neurons

Real-time Imaging of Axonal Transport of Quantum Dot-labeled BDNF in Primary Neurons

Published on: September 15, 2014

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

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Published on: February 27, 2018

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

Area of Science:

Neuroscience
Genetics
Molecular Biology

Background:

Huntingtin (HTT) is an essential gene, primarily known for its role in Huntington's disease (HD) pathogenesis.
HD results from a CAG expansion in the HTT gene, leading to mutant huntingtin with toxic gain-of-function properties.
Wild-type huntingtin's normal functions and potential loss-of-function effects are increasingly recognized as important in HD.

Purpose of the Study:

To review the putative functions of wild-type huntingtin.
To examine wild-type huntingtin expression and variation during neurodevelopment.
To understand the role of wild-type huntingtin in the absence of mutant HTT alleles.

Main Methods:

Literature review of studies on wild-type huntingtin function.
Analysis of neurodevelopmental phenotypes in models with altered wild-type huntingtin.
Synthesis of research on HTT gene expression and variation.

Main Results:

Wild-type huntingtin loss-of-function may contribute to HD pathogenesis.
Irregular neurodevelopmental phenotypes are observed in HD models, resembling wild-type huntingtin loss-of-function.
Understanding normal HTT function is vital for therapeutic development.

Conclusions:

Further research into wild-type huntingtin's role in neurodevelopment is necessary.
Investigating wild-type huntingtin independent of mutant alleles provides new insights.
This understanding can inform therapeutic strategies for Huntington's disease and other neurological disorders.