1. Progressive hepatic mitochondrial dysfunction in premanifest Huntington's disease.
- Author
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Hoffmann R, Stüwe SH, Goetze O, Banasch M, Klotz P, Lukas C, Tegenthoff M, Beste C, Orth M, and Saft C
- Subjects
- Adult, Disease Progression, Female, Follow-Up Studies, Humans, Huntingtin Protein, Huntington Disease genetics, Liver Diseases diagnosis, Male, Middle Aged, Mitochondria pathology, Nerve Tissue Proteins genetics, Statistics as Topic, Trinucleotide Repeats genetics, Young Adult, Huntington Disease complications, Liver Diseases etiology, Mitochondrial Diseases etiology
- Abstract
Background: A subclinical, hepatic involvement in manifest and premanifest Huntington's disease (HD) was recently demonstrated by using the (1) (3) C-methionine breath test (MeBT). In this longitudinal pilot study, we investigated whether there is evidence for progressive hepatic mitochondrial dysfunction in premanifest HD., Methods: The MeBT was performed within a group of 25 well-characterized premanifest HD mutation carriers at baseline and in a 14.5-month follow-up., Results: The total group of mutation carriers (P = 0.033; Cohen's d = 0.6) and the subgroup of mutation carriers from our PreHD-B subgroup (nearer to disease onset; P = 0.030; Cohen's d = 1.12) revealed a lower amount of exhaled (13) CO2 in the follow-up., Conclusions: This study demonstrates in vivo progressive, subclinical, hepatic involvement in premanifest HD. Limitations of the study, such as high variance in breath test results, are discussed., (© 2014 International Parkinson and Movement Disorder Society.)
- Published
- 2014
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