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Progressive hepatic mitochondrial dysfunction in premanifest Huntington's disease

Rainer Hoffmann1, Sven H Stüwe, Oliver Goetze

  • 1Department of Neurology, Huntington Center NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum, Germany.

Movement Disorders : Official Journal of the Movement Disorder Society
|April 9, 2014
PubMed
Abstract

Insights

Progressive hepatic mitochondrial dysfunction is evident in premanifest Huntington's disease (HD). The (13)C-methionine breath test (MeBT) revealed declining liver function in HD mutation carriers over time.

Area of Science:

  • Neuroscience
  • Hepatology
  • Metabolic Disorders

Background:

  • Subclinical hepatic involvement is recognized in Huntington's disease (HD).
  • The (13)C-methionine breath test (MeBT) previously indicated liver involvement in HD.
  • Hepatic mitochondrial dysfunction is a potential factor in premanifest HD.

Purpose of the Study:

  • To investigate progressive hepatic mitochondrial dysfunction in premanifest HD.
  • To longitudinally assess liver function in premanifest HD mutation carriers using MeBT.

Main Methods:

  • A longitudinal pilot study involving 25 premanifest HD mutation carriers.
  • Repeated (13)C-methionine breath tests (MeBT) at baseline and 14.5-month follow-up.
  • Analysis of exhaled (13)CO2 to assess hepatic metabolic function.

Main Results:

  • A significant decrease in exhaled (13)CO2 was observed in the total group of mutation carriers.
  • A subgroup closer to disease onset (PreHD-B) showed a more pronounced reduction in exhaled (13)CO2.
  • These findings suggest progressive hepatic involvement in premanifest HD.

Conclusions:

  • The study provides in vivo evidence of progressive, subclinical hepatic involvement in premanifest HD.
  • Hepatic mitochondrial dysfunction appears to worsen over time in individuals with premanifest HD.
  • Acknowledged limitations include the variability of breath test results, warranting further investigation.
Keywords:
livermethioninemitochondriapremanifest Huntington's disease

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