Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting

Signe Marie Borch Nielsen, Tua Vinther-Jensen, Jørgen E Nielsen, Anne Nørremølle, Lis Hasholt, Lena E Hjermind, Knud Josefsen

13 Citations (Scopus)

Abstract

Huntington's disease (HD) is a dominantly inherited, progressive neurological disorder caused by a CAG repeat elongation in the huntingtin gene. In addition to motor-, psychiatric- and cognitive dysfunction, peripheral disease manifestations in the form of metabolic changes and cellular dysfunction are seen. Blood levels of a wide range of hormones, metabolites and proteins have been analyzed in HD patients, identifying several changes associated with the disease. However, a comprehensive panel of liver function tests (LFT) has not been performed. We investigated a cohort of manifest and premanifest HD gene-expansion carriers and controls, using a clinically applied panel of LFTs. Here, we demonstrate that the level of alkaline phosphatase is increased in manifest HD gene-expansion carriers compared to premanifest HD gene-expansion carriers and correlate with increased disease severity indicated by the Unified Huntington's disease rating scale-Total Functional Capacity Score (UHDRS-TFC). For gamma-glutamyl transferase, elevated levels were more frequent in the manifest groups than in both the HD gene-expansion negative controls and premanifest HD gene-expansion carriers. Finally, the manifest HD gene-expansion carriers displayed moderate increases in total cholesterol and blood glucose relative to the premanifest HD gene-expansion carriers, as well as increased C-reactive protein relative to HD gene-expansion negative controls. Our results show that LFT values are elevated more frequently in manifest compared to premanifest HD gene-expansion carriers and controls. The majority of the manifest HD gene-expansion carriers receive medication, and it is possible that this can influence the liver function tests performed in this study.

Original languageEnglish
JournalJournal of the Neurological Sciences
Volume362
Pages (from-to)326-32
Number of pages7
ISSN0022-510X
DOIs
Publication statusPublished - 15 Mar 2016

Keywords

  • Adolescent
  • Adult
  • C-Reactive Protein
  • Cognition Disorders
  • Cohort Studies
  • Female
  • Humans
  • Huntington Disease
  • Liver Diseases
  • Liver Function Tests
  • Male
  • Middle Aged
  • Statistics, Nonparametric
  • Trinucleotide Repeats
  • Young Adult
  • gamma-Glutamyltransferase
  • Journal Article
  • Research Support, Non-U.S. Gov't

Fingerprint

Dive into the research topics of 'Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting'. Together they form a unique fingerprint.

Cite this