Document Detail


Systemic energy homeostasis in Huntington's disease patients.
MedLine Citation:
PMID:  20710011     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by an increased number of CAG repeats in the HTT gene. Apart from neurological impairment, the disease is also accompanied by progressive weight loss, abnormalities in fat and glucose homeostasis and a higher prevalence of diabetes mellitus, the causes of which are unknown. Therefore, a detailed analysis of systemic energy homeostasis in HD patients in relation to disease characteristics was performed.
METHODS: Indirect calorimetry combined with a hyperinsulinaemic-euglycaemic clamp with stable isotopes ([6,6-2H2]-glucose and [2H5]- glycerol) was performed to assess energy expenditure and glucose and fat metabolism in nine early stage, medication free HD patients and nine age, sex and body mass index matched controls.
RESULTS: Compared with controls, fasting energy expenditure was higher in HD patients (1616 ± 72 vs 1883 ± 93 kcal/24 h, p=0.037) and increased even further after insulin stimulation (1667 ± 87 vs 2068 ± 122 kcal/24 h, p=0.016). During both basal and hyperinsulinaemic conditions, glucose and glycerol disposal rates, endogenous glucose production and hepatic insulin sensitivity were similar between HD patients and controls. In HD patients, energy expenditure increased with disease duration but not with a greater degree of motor or functional impairment. Moreover, a higher mutant CAG repeat size was associated with lower insulin sensitivity (r=-0.84, p=0.018).
CONCLUSION: These findings suggest sympathetic hyperactivity as an underlying mechanism of increased energy expenditure in HD, as well as peripheral polyglutamine length dependent interference of mutant huntingtin with insulin signalling that may become clinically relevant in carriers of mutations with large CAG repeat sizes.
Authors:
N Ahmad Aziz; Hanno Pijl; Marijke Frölich; Marieke Snel; Trea C M Streefland; Ferdinand Roelfsema; Raymund A C Roos
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-08-14
Journal Detail:
Title:  Journal of neurology, neurosurgery, and psychiatry     Volume:  81     ISSN:  1468-330X     ISO Abbreviation:  J. Neurol. Neurosurg. Psychiatr.     Publication Date:  2010 Nov 
Date Detail:
Created Date:  2010-10-25     Completed Date:  2010-12-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985191R     Medline TA:  J Neurol Neurosurg Psychiatry     Country:  England    
Other Details:
Languages:  eng     Pagination:  1233-7     Citation Subset:  IM    
Affiliation:
Department of Neurology, Leiden University Medical Centre, K-05-Q 110, PO Box 9600, Albinusdreef 2, Leiden 2300 RC, The Netherlands. n.a.aziz@lumc.nl
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MeSH Terms
Descriptor/Qualifier:
Adult
Blood Glucose / metabolism
Calorimetry, Indirect
Energy Metabolism / physiology*
Female
Glucagon / blood
Glucose Clamp Technique
Homeostasis / physiology*
Humans
Huntington Disease / genetics,  metabolism*
Insulin / blood
Insulin Resistance / physiology
Lipid Metabolism / physiology
Male
Middle Aged
Nerve Tissue Proteins / genetics
Nuclear Proteins / genetics
Signal Transduction / physiology
Trinucleotide Repeats
Chemical
Reg. No./Substance:
0/Blood Glucose; 0/HD protein, human; 0/Nerve Tissue Proteins; 0/Nuclear Proteins; 11061-68-0/Insulin; 9007-92-5/Glucagon

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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