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Related Concept Videos

Huntington Disease l: Introduction01:21

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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...
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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
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Related Experiment Video

Updated: May 5, 2026

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
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Development-related gene expression disruption in the human midcingulate cortex in Huntington's disease.

Shelly Scheepers1, Mackenzie W Ferguson1,2, Thulani H Palpagama1

  • 1Centre for Brain Research and Department of Anatomy and Medical Imaging, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.

Journal of Huntington'S Disease
|May 4, 2026
PubMed
Summary

Huntington's disease (HD) affects mood and motor function, potentially due to developmental gene misregulation in the midcingulate cortex (MCC). This study reveals a developmental transcriptional signature in the adult HD MCC, impacting neuronal pathways.

Keywords:
Huntington's diseaseRNAseqgene expressionhuman brainmidcingulate cortex

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

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Huntington's disease (HD) is linked to mood symptoms, often associated with anterior cingulate cortex atrophy.
  • The specific role of the midcingulate cortex (MCC) in HD pathophysiology remains unclear.

Purpose of the Study:

  • To investigate the transcriptomic changes in the MCC of individuals with Huntington's disease.
  • To identify molecular pathways and gene expression alterations in the HD MCC.

Main Methods:

  • Utilized mRNA sequencing to analyze the MCC transcriptome in 14 HD patients.
  • Validated differentially expressed genes using NanoString analysis.
  • Performed protein-protein interaction, gene ontology, and cell-type enrichment analyses.

Main Results:

  • Identified differential expression of 223 genes in the HD MCC, including developmental and noncoding genes.
  • Found dysregulated pathways related to embryonic development, organogenesis, epigenetic modification, and motor system development.
  • Observed misexpressed genes linked to limb, muscle, and motor neuron development in the motor symptom cohort.

Conclusions:

  • Mutant huntingtin may disrupt developmental processes in the MCC via aberrant WNT, REST, and transcription factor signaling.
  • These alterations suggest a developmentally associated transcriptional signature in the adult HD MCC.
  • This signature may contribute to altered MCC motor circuitry and neuronal maturation in Huntington's disease.