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Challenges of Huntington's disease and quest for therapeutic biomarkers

Eva Kotrcova1, Karla Jarkovska, Ivona Valekova

  • 1Institute of Animal Physiology and Genetics, Academy of Sciences of the Czech Republic, Libechov, Czech Republic; Research Center PIGMOD, Libechov, Czech Republic.

Proteomics. Clinical Applications
|October 8, 2014
PubMed

Insights

Huntington's disease (HD) is a neurodegenerative disorder caused by a genetic mutation. Research is identifying protein biomarkers in the brain and body fluids for better diagnosis and clinical trials.

Area of Science:

  • Neurodegenerative diseases
  • Genetics
  • Molecular biology

Background:

  • Huntington's disease (HD) is an inherited neurodegenerative disorder caused by expanded cytosine-adenine-guanine repeats in the huntingtin gene.
  • This mutation alters the huntingtin protein (HD protein), affecting cellular functions like metabolism, transport, and neuronal vulnerability.
  • These molecular changes are implicated in the pathogenesis of HD.

Purpose of the Study:

  • To identify and evaluate molecular biomarkers for Huntington's disease.
  • To investigate the role of the huntingtin protein, its post-translational modifications (PTMs), and interacting proteins in HD pathogenesis.
  • To explore potential biomarkers in the brain, body fluids, and immune system for clinical trials.

Main Methods:

  • Proteomic studies to identify candidate molecular biomarkers.
  • Analysis of the huntingtin protein, its PTMs, and interacting proteins.
  • Investigation of biological systems including the brain, body fluids, and immune system.

Main Results:

  • Proteomic studies have revealed promising candidate molecular biomarkers for HD.
  • The huntingtin protein's conformation, PTMs, and interactions are significantly affected by the mutation.
  • Alterations in cellular mechanisms are linked to HD pathogenesis.

Conclusions:

  • The huntingtin protein and its modifications are crucial in HD.
  • Biomarkers from the brain, body fluids, and immune system show potential for clinical applications.
  • Further research into these biomarkers is vital for HD translational research and clinical trials.

Keywords:
HD biomarkersHuntingtin neurotoxicityHuntingtin pathogenesisHuntington's disease

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