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[From gene to disease; HD gene and Huntington disease]
J A Maat-Kievit1, M Losekoot, R A Roos
1Erasmus Universitair Medisch Centrum, afd. Klinische Genetica, Westzeedijk 112, 3016 AH Rotterdam. maat@kgen.azr.nl
Insights
Huntington's disease (HD) is an inherited neurological disorder. DNA testing can now identify individuals at risk for this progressive condition caused by a genetic mutation.
Area of Science:
- Neurogenetics
- Neurodegenerative Diseases
- Clinical Neurology
Background:
- Huntington's disease (HD) is a progressive, autosomal dominant, neurodegenerative disorder.
- Characterized by motor, cognitive, and psychiatric symptoms, HD has a typical late onset.
- While clinically diagnosed, DNA testing enables early identification in at-risk individuals.
Purpose of the Study:
- To provide a comprehensive overview of Huntington's disease.
- To discuss the genetic basis and diagnostic advancements in HD.
- To highlight the implications of genetic testing for affected families.
Main Methods:
- Review of existing literature on Huntington's disease.
- Analysis of genetic mechanisms underlying HD.
- Discussion of diagnostic criteria and testing modalities.
Main Results:
- HD is caused by an expanded CAG trinucleotide repeat in the HD gene.
- The mutation leads to a gain-of-function in the huntingtin protein.
- Prevalence varies by ethnicity, with higher rates in European descent populations.
Conclusions:
- Genetic testing has revolutionized the diagnosis and management of Huntington's disease.
- Understanding the molecular basis of HD is crucial for developing future therapies.
- Early diagnosis through genetic testing allows for proactive management and family planning.
Abstract:
Huntington's disease (HD) is a late onset, incurable, autosomal dominantly-inherited, progressive neuropsychiatric disease, characterised by chorea, changes in personality, mood and behaviour, and dementia. Huntington's disease is a clinical diagnosis. The advent of DNA diagnosis has made predictive, prenatal and preimplantation testing possible for at-risk persons or asymptomatic carriers. The prevalence is estimated to be 3-10/100,000 among individuals of European descent; HD is less common in other ethnic groups. Huntington's disease is caused by an expanded trinucleotide CAG repeat in the HD gene on chromosome 4. The gene encodes for the protein huntingtin, with an as yet unknown function. The mutated huntingtin has an elongated stretch of glutamines which leads to a gain of function such as overactivity, excitotoxicity, or to interactions with other proteins.