Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

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,...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
Pharmacodynamic Models: Overview01:27

Pharmacodynamic Models: Overview

Pharmacodynamic (PD) responses describe the interaction between a drug and its biological target, culminating in a physiological effect. These responses can be classified into different types: continuous variables, such as blood glucose levels; categorical outcomes, like survival rates; and time-to-event metrics, such as disease progression. Understanding and modeling PD responses are critical for optimizing drug efficacy and safety.PD models describe the relationship between drug concentration...
Alzheimer Disease ll: Pathophysiology01:23

Alzheimer Disease ll: Pathophysiology

Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is to...
Mechanistic Models: Overview of Compartment Models01:21

Mechanistic Models: Overview of Compartment Models

Mechanistic models, a category encompassing both physiological and compartmental modeling, differ from empirical models' approaches to incorporating known factors about the systems being modeled. Empirical models describe data with minimal assumptions, while mechanistic models aim to provide a robust description of available data by specifying assumptions and integrating known factors about the system. Compartmental analysis is a key example of a mechanistic model in pharmacokinetics and...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Natural genetic variations underlying iron and zinc uptake efficiency in rice under direct-seeded cultivation conditions.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2026
Same author

Pharmacological mechanisms of fisetin in neurodegenerative disorders: regulation of neuroinflammatory, oxidative, and autophagic pathways.

Naunyn-Schmiedeberg's archives of pharmacology·2026
Same author

Mechanistic insights into anti-parkinson effect of baicalein: from neuroinflammation and cell death to neurogenesis and synaptic plasticity.

Molecular biology reports·2026
Same author

Radiological and Histopathological Correlative Analysis of Bone Tumors and Tumor-Like Lesions at a Tertiary Care Center.

Cureus·2026
Same author

Tracking the Trail of Monkeypox: From Origins to Outbreak Control.

Cell biochemistry and function·2026
Same author

Eosinophilic cholangitis as an indeterminate biliary mimic: A systematic review of outcomes.

The American journal of the medical sciences·2026

Related Experiment Video

Updated: May 20, 2026

Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease
08:09

Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease

Published on: January 7, 2014

Understanding Huntington's Disease: Epidemiology, Mechanisms, and Modeling Approaches.

Satya Prakash1, Neha Kumari1, Lovedeep Singh1

  • 1University Institute of Pharma Sciences (UIPS), Chandigarh University, NH-95 Chandigarh Ludhiana Highway, Mohali, Punjab, India.

CNS & Neurological Disorders Drug Targets
|May 19, 2026
PubMed
Summary
This summary is machine-generated.

Huntington's disease (HD) is a genetic neurodegenerative disorder caused by expanded CAG repeats in the huntingtin gene. This review details how these mutations disrupt huntingtin protein function, impacting cellular processes and leading to neuronal dysfunction.

Keywords:
Huntington diseaseanimal model.clinical trialspathophysiology

More Related Videos

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
10:52

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

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

Related Experiment Videos

Last Updated: May 20, 2026

Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease
08:09

Gene-environment Interaction Models to Unmask Susceptibility Mechanisms in Parkinson's Disease

Published on: January 7, 2014

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
10:52

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

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

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Huntington's disease (HD) is a monogenic, autosomal dominant neurodegenerative disorder.
  • Caused by a CAG trinucleotide repeat expansion in the huntingtin gene (HTT) on chromosome 4.
  • The molecular and cellular mechanisms underlying HD pathogenesis are complex and not fully understood.

Purpose of the Study:

  • To review the established functions of normal huntingtin protein.
  • To discuss the detrimental effects of CAG repeat expansions and resulting polyglutamine tracts.
  • To provide a modern perspective on the molecular biology of HD as a polyglutamine disorder.

Main Methods:

  • Literature review of established functions of normal huntingtin protein.
  • Examination of molecular consequences of CAG repeat expansions.
  • Analysis of cellular pathways implicated in HD pathogenesis.

Main Results:

  • Mutant huntingtin protein disrupts cellular structure and function, particularly in vulnerable neurons.
  • Key pathways affected include autophagy, mitochondrial function, lysosomal activity, protein/organelle transport, inflammation, oxidative stress, and gene regulation.
  • The review highlights the multifaceted cellular dysfunctions arising from the expanded polyglutamine tract.

Conclusions:

  • Understanding normal huntingtin function is crucial for elucidating HD pathogenesis.
  • Mutant huntingtin triggers a cascade of cellular dysfunctions contributing to neurodegeneration.
  • Further research is needed to clarify all aspects of HD development at the molecular level.