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Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
Published on: February 27, 2018
[Huntington´s disease - overview]
Saga Briem1, Thorsteinn Bjornsson2, Vigdis Stefansdottir3
1University of Iceland, Faculty of Medicine.
Insights
Huntington's disease (HD), a neurodegenerative disorder, shows increasing prevalence in Iceland due to better diagnostics. Current treatments manage symptoms, as no cure exists for this genetic condition.
Area of Science:
- Genetics and Neurology
- Neurodegenerative Disorders
- Molecular Biology
Background:
- Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder.
- It is characterized by motor, psychiatric, and cognitive impairments.
- HD stems from expanded CAG repeats in the HTT gene, causing toxic huntingtin protein accumulation and neurodegeneration.
Purpose of the Study:
- To review the epidemiology, genetics, clinical features, diagnosis, and treatment of Huntington's disease.
- To highlight recent Icelandic research findings on HD prevalence and prospects.
- To provide an overview of HD management strategies.
Main Methods:
- Literature review focusing on Huntington's disease.
- Analysis of epidemiological data, including Icelandic studies.
- Synthesis of genetic, clinical, and diagnostic information.
- Review of current and future treatment approaches.
Main Results:
- Previously reported low prevalence of HD in Iceland is now indicated to be increasing.
- Improved diagnostic capabilities and genetic testing contribute to the observed rise in prevalence.
- No disease-modifying treatments are currently available for HD.
Conclusions:
- HD management focuses on symptomatic relief and multidisciplinary care to enhance patient quality of life.
- Continued research and improved diagnostics are crucial for understanding and managing HD.
- Icelandic research provides valuable insights into HD epidemiology and genetic factors.
Abstract:
Huntington's disease (HD) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive movement disturbances, psychiatric symptoms, and cognitive impairment. The disease is caused by an increased number of repeats of the cytosine-adenine-guanine (CAG) base sequence in the HTT gene, leading to the production of a huntingtin protein with toxic gain-of-function properties and the accumulation of protein aggregates in neurons, resulting in neurodegeneration. The prevalence of HD has previously been reported to be low in Iceland compared with other European countries. However, recent studies indicate an increased prevalence, likely due to improved diagnostic capabilities and greater use of genetic testing. Diagnosis is based on clinical evaluation, family history, and confirmation by genetic testing. Currently, no disease-modifying treatment is available, but symptomatic management and a multidisciplinary approach can improve patients' functional abilities and quality of life. This review article discusses the epidemiology, genetics, clinical manifestations, diagnosis, and treatment of Huntington's disease, with particular emphasis on recent Icelandic research findings and future prospects.
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