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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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Updated: Jun 20, 2026

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

Published on: June 9, 2018

Integrative Meta-Analysis of Huntington's Disease Transcriptome Landscape.

Nela Pragathi Sneha¹, S Akila Parvathy Dharshini¹, Y-H Taguchi²

¹Department of Biotechnology, Bhupat and Jyoti Mehta School of Biosciences, Indian Institute of Technology Madras, Chennai 600036, Tamilnadu, India.

|December 23, 2022

Summary

This summary is machine-generated.

Huntington's disease (HD) variants disrupt gene expression and neuroinflammation, impacting vasculature and energy metabolism. Targeting these pathways may protect neurons from cell death.

Keywords:

Brodmann Area 9 Huntington’s disease function interaction network tissue-specific network analysis variant effect

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Area of Science:

Genetics and Molecular Biology
Neuroscience
Genomics

Background:

Huntington's disease (HD) is a fatal neurodegenerative disorder linked to expanded glutamine in the Huntingtin gene (HTT).
Striatal projection neurons (SPNs) are particularly vulnerable in HD, with connections to Brodmann Area 9 (BA9), crucial for motor function.
Previous studies focused on gene expression changes, but the impact of variants on gene regulation in HD remains less understood.

Approach:

Analyzed RNA-seq data from BA9 tissue samples in HD patients from the SRA database.
Computed gene and transcript abundance, identified variants, and predicted their regulatory effects using multiple pipelines.
Integrated omics data to investigate variant effects on histone acetylation, transcription factor networks, and miRNA binding.

Key Points:

Numerous variants identified in HD affect histone acetylation patterns, disrupting transcription factor networks.
Some variants influence microRNA (miRNA) binding and subsequent downstream gene expression.
Tissue-specific network analysis revealed disruptions in mitochondrial, neuroinflammation, vasculature, and angiogenesis-related genes in HD.

Conclusions:

Abnormal neuroinflammation in HD acts as a double-edged sword, indirectly impacting vasculature and energy metabolism.
Rehabilitating blood-brain barrier function and improving energy metabolism are proposed therapeutic strategies to prevent neuron death in HD.