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Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
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Pharmacogenetics in the Treatment of Huntington's Disease: Review and Future Perspectives

Xandra García-González1, Esther Cubo2,3, Lucía Simón-Vicente3

  • 1Pharmacy Department, Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM), Hospital General Universitario Gregorio Marañón, 28007 Madrid, Spain.

Journal of Personalized Medicine
|March 29, 2023
PubMed

Insights

Pharmacogenetics can optimize Huntington's disease (HD) treatment by predicting drug response and preventing side effects. Further research is needed to apply pharmacogenetic knowledge for better symptom management in HD patients.

Area of Science:

  • Neurogenetics
  • Pharmacology
  • Rare Diseases

Background:

  • Huntington's disease (HD) is a rare, autosomal dominant neurodegenerative disorder caused by CAG repeat expansion in the huntingtin gene.
  • HD presents with cognitive, motor, and neuropsychiatric symptoms, significantly impacting patient quality of life.
  • Current HD treatments are symptomatic, addressing hyperkinetic and behavioral disturbances.

Purpose of the Study:

  • To review available literature on the pharmacogenetics of Huntington's disease.
  • To compile evidence for optimizing drug administration in HD patients.
  • To explore the potential of pharmacogenetics in managing HD symptoms like chorea, depression, and psychosis.

Main Methods:

  • Systematic literature review of pharmacogenetic studies related to Huntington's disease.
  • Analysis of existing evidence on genotype-guided drug response prediction.
  • Identification of research gaps in pharmacogenetic applications for HD.

Main Results:

  • Pharmacogenetic studies show promise for predicting treatment response and preventing adverse drug effects.
  • While pharmacogenetics is established in psychiatric disorders, its application in HD is under-investigated.
  • Chorea, depression, and psychosis in HD could potentially be better managed with pharmacogenetic insights.

Conclusions:

  • Pharmacogenetics offers a potential avenue for personalized treatment strategies in Huntington's disease.
  • Further research is crucial to support the clinical feasibility and applicability of pharmacogenetics in HD.
  • Integrating pharmacogenetic knowledge may improve symptom control and quality of life for HD patients.

Keywords:
Huntingtonantichoreicantidepressantantipsychoticpharmacogenetics

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