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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.
Summary
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.
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