Related Experiment Video
Updated: May 28, 2026
07:08
Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
Published on: February 27, 2018
Huntington's disease: from gene to potential therapy
1Max-Planck-lnstitut für Molekulare Genetik, Berlin (Dahlem), Germany.
Dialogues in Clinical Neuroscience
|October 29, 2011
Summary
Huntington's disease (HD) research explores its genetic cause and molecular mechanisms. Studies using in vivo and in vitro models aim to develop treatments for this progressive neurodegenerative disorder.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder affecting 1 in 10,000 individuals.
- It is caused by a polyglutamine repeat expansion in the huntingtin protein, leading to neuronal dysfunction and cell death.
- The precise molecular mechanisms and normal huntingtin function remain largely unknown, with no current therapies available.
Purpose of the Study:
- To elucidate the pathogenetic mechanisms of Huntington's disease.
- To identify potential therapeutic strategies for preventing or slowing disease progression.
- To present new research findings focusing on HD models and molecular mechanisms.
Main Methods:
- Utilizing in vivo and in vitro model systems to study Huntington's disease.
- Investigating the molecular mechanisms underlying neuronal dysfunction and cell death in HD.
- Exploring potential therapeutic interventions for Huntington's disease.
Main Results:
- New research results on Huntington's disease are presented.
- Focus on findings from in vivo and in vitro model systems.
- Exploration of potential molecular mechanisms and therapeutic strategies.
Conclusions:
- Understanding HD pathogenesis is crucial for developing effective treatments.
- Further research using model systems is essential for advancing HD therapies.
- Developing treatments to prevent or slow HD symptoms is a key goal.
More Related Videos
Related Concept Videos
01:21Huntington 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,...
00:59Gene Therapy
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
00:59Gene Therapy
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
01:29Pharmacogenomics: 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...
01:24Parkinson 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...
01:15Parkinson'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...