Progressive hepatic mitochondrial dysfunction in premanifest Huntington's disease.
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.
Department of Neurology, Huntington Center NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum, Germany.
Rainer
R
Hoffmann
Sven H
SH
Stüwe
Oliver
O
Goetze
Matthias
M
Banasch
Peter
P
Klotz
Carsten
C
Lukas
Martin
M
Tegenthoff
Christian
C
Beste
Michael
M
Orth
Carsten
C
Saft
D000328:Adult; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000150:complications* / Q000235:genetics; D008107:Liver Diseases / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000473:pathology; D028361:Mitochondrial Diseases / Q000209:etiology*; D009419:Nerve Tissue Proteins / Q000235:genetics; D013223:Statistics as Topic; D018911:Trinucleotide Repeats / Q000235:genetics; D055815:Young Adult
C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins
liver; methionine; mitochondria; premanifest Huntington's disease