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Metabolic disturbances in plasma as biomarkers for Huntington's disease

Mei-Ling Cheng1, Kuo-Hsuan Chang2, Yih-Ru Wu2

  • 1Healthy Aging Research Center, Chang Gung University, Tao-Yuan, Taiwan; Metabolomics Core Laboratory, Chang Gung University, Tao-Yuan, Taiwan; Department of Biomedical Sciences, College of Medicine, Chang Gung University, Tao-Yuan, Taiwan.

The Journal of Nutritional Biochemistry
|May 3, 2016
PubMed

Insights

Huntington's disease (HD) involves altered metabolites, including carnitine, amino acids, and phosphatidylcholines. These metabolic changes in plasma and leukocytes suggest disturbed metabolism contributes to HD pathogenesis.

Area of Science:

  • Neuroscience
  • Metabolomics
  • Genetics

Background:

  • Huntington's disease (HD) is a neurodegenerative disorder caused by expanded CAG repeats in the huntingtin gene.
  • HD is characterized by neuronal degeneration in the striatum and cortex.
  • Previous studies suggest metabolite alterations in HD, but a comprehensive plasma metabolomics profile is lacking.

Purpose of the Study:

  • To delineate the plasma metabolomics profile in Huntington's disease (HD).
  • To investigate alterations in phosphatidylcholine metabolism and related enzyme activities in HD.
  • To identify potential metabolic biomarkers for HD pathogenesis and therapeutic targets.

Main Methods:

  • Global metabolomics screening of plasma samples from HD patients and controls.
  • Quantitative analysis of specific metabolites including carnitines, amino acids, and phosphatidylcholines.
  • Examination of key enzyme expression and activity involved in phosphatidylcholine metabolism in leukocytes.

Main Results:

  • Plasma metabolomics successfully distinguished HD patients from controls using metabolites from carnitine, amino acid, and phosphatidylcholine classes.
  • Identified one up-regulated (glycine) and nine down-regulated metabolites in HD patients, including taurine, serotonin, valine, isoleucine, and specific phosphatidylcholine and lysophosphatidylcholine species.
  • Observed down-regulation of PCYT1A and increased phospholipase A2 activity in leukocytes of HD patients.

Conclusions:

  • Disturbed metabolism, particularly in carnitine, amino acid, and phosphatidylcholine pathways, is implicated in Huntington's disease pathogenesis.
  • Metabolic profiling provides insights into the molecular mechanisms underlying HD.
  • These findings offer potential biomarkers and therapeutic targets for Huntington's disease.

Keywords:
Amino acidBiomarkersHuntington's diseaseMetabolomicsPCYT1APhosphatidylcholinePhospholipase A(2)

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