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Related Concept Videos

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Huntington Disease l: Introduction01:21

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: Jun 17, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

9.7K

Molecular Research on Huntington's Disease.

Luis M Valor1

  • 1Unidad de Investigación, Hospital General Universitario Dr. Balmis, ISABIAL, 03010 Alicante, Spain.

International Journal of Molecular Sciences
|March 11, 2023
PubMed
Summary

Huntington's disease (HD) is a neurodegenerative disorder caused by a CAG expansion in the HTT gene. Research focuses on understanding the genetic basis and developing targeted therapies for this condition.

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Huntington's disease (HD) is a fatal neurodegenerative disorder.
  • It is characterized by the expansion of CAG repeats in the Huntingtin (HTT) gene.
  • This genetic defect leads to the production of mutant huntingtin protein, causing neuronal dysfunction and death.

Discussion:

  • The aberrant expansion of CAG triplets in the HTT gene is the primary cause of Huntington's disease.
  • Mutant huntingtin protein aggregates in neurons, leading to cellular toxicity.
  • Understanding the molecular mechanisms underlying CAG repeat expansion and its consequences is crucial for therapeutic development.

Key Insights:

  • The precise mechanisms driving CAG repeat instability in the HTT gene are still under investigation.

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Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
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Last Updated: Jun 17, 2026

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07:08

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Generation of Native, Untagged Huntingtin Exon1 Monomer and Fibrils Using a SUMO Fusion Strategy
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  • Identifying factors that modulate repeat expansion could offer therapeutic targets.
  • Research is exploring the role of DNA repair pathways and epigenetic modifications in HD pathogenesis.

    • Outlook:

    • Future research aims to elucidate the complex interplay between genetic factors and environmental influences in HD.
    • Developing strategies to prevent or reverse CAG repeat expansion is a key goal.
    • Targeting the downstream effects of mutant huntingtin protein offers therapeutic promise for HD patients.