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Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating

T Vinther-Jensen1,2, T T Nielsen1,3, E Budtz-Jørgensen4

  • 1Neurogenetics Clinic, Danish Dementia Research Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

Clinical Genetics
|June 18, 2015
PubMed

Insights

Genetic variations in MAOA and COMT genes, along with the 4p16.3 B haplotype, influence cognitive and psychiatric symptoms in Huntington's disease (HD). This suggests dopamine pathways are key to understanding HD

Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Huntington's disease (HD) is an inherited neurodegenerative disorder with motor, cognitive, and psychiatric symptoms.
  • The exact pathogenesis of HD, caused by a CAG repeat expansion in the Huntingtin (HTT) gene, remains unclear.
  • Dopamine imbalance is implicated in HD's diverse manifestations, but genetic modifiers for symptom variability are largely undiscovered.

Purpose of the Study:

  • To identify genetic modifiers of cognitive impairment and psychiatric symptoms in Huntington's disease.
  • To investigate the role of dopamine-related gene polymorphisms in HD symptom presentation.

Main Methods:

  • Analysis of a well-characterized cohort of Danish Huntington's disease gene-expansion carriers.
  • Genotyping for polymorphisms in monoamine oxidase A (MAOA) and catechol-O-methyltransferase (COMT) genes.
  • Assessment of the 4p16.3 B haplotype in relation to cognitive and psychiatric symptoms.

Main Results:

  • Polymorphisms in MAOA and COMT genes significantly modify cognitive impairment in HD patients.
  • The 4p16.3 B haplotype also influences psychiatric symptoms associated with Huntington's disease.
  • These findings correlate with the established theory of dopamine imbalance in HD pathogenesis.

Conclusions:

  • Genetic variations in dopamine-related pathways (MAOA, COMT) and the 4p16.3 B haplotype act as modifiers for cognitive and psychiatric symptoms in Huntington's disease.
  • These results reinforce the role of dopamine dysregulation in HD.
  • Identifying these modifiers may pave the way for personalized treatment strategies for Huntington's disease.

Keywords:
Huntington's diseasecatecholaminescognitive impairmentgenetic modifierspsychiatric symptoms

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