Abstract
BackgroundHuntington’s disease patients have a number of peripheral manifestations suggestive of metabolic and endocrine abnormalities. We, therefore, investigated a number of metabolic factors in a 24-hour study of Huntington’s disease gene carriers (premanifest and moderate stage II/III) and controls.MethodsControl (n = 15), premanifest (n = 14) and stage II/III (n = 13) participants were studied with blood sampling over a 24-hour period. A battery of clinical tests including neurological rating and function scales were performed. Visceral and subcutaneous adipose distribution was measured using magnetic resonance imaging. We quantified fasting baseline concentrations of glucose, insulin, cholesterol, triglycerides, lipoprotein (a), fatty acids, amino acids, lactate and osteokines. Leptin and ghrelin were quantified in fasting samples and after a standardised meal. We assessed glucose, insulin, growth hormone and cortisol concentrations during a prolonged oral glucose tolerance test.ResultsWe found no highly significant differences in carbohydrate, protein or lipid metabolism markers between healthy controls, premanifest and stage II/III Huntington’s disease subjects. For some markers (osteoprotegerin, tyrosine, lysine, phenylalanine and arginine) there is a suggestion (p values between 0.02 and 0.05) that levels are higher in patients with premanifest HD, but not moderate HD. However, given the large number of statistical tests performed interpretation of these findings must be cautious.ConclusionsContrary to previous studies that showed altered levels of metabolic markers in patients with Huntington’s disease, our study did not demonstrate convincing evidence of abnormalities in any of the markers examined. Our analyses were restricted to Huntington’s disease patients not taking neuroleptics, anti-depressants or other medication affecting metabolic pathways. Even with the modest sample sizes studied, the lack of highly significant results, despite many being tested, suggests that the majority of these markers do not differ markedly by disease status.
Highlights
Huntington’s disease (HD) is a devastating hereditary neurodegenerative disorder characterised by progressive motor, cognitive and psychiatric impairment [1]
We found no highly significant differences in carbohydrate, protein or lipid metabolism markers between healthy controls, premanifest and stage II/III Huntington’s disease subjects
Both animal and human studies indicate that some of the peripheral symptoms of HD, including weight loss and alterations in appetite, could be linked to endocrine and metabolic alterations [3, 4]. These alterations may be reflected in plasma levels of carbohydrate, lipid or protein metabolites and/or hormones related to energy metabolism
Summary
Huntington’s disease (HD) is a devastating hereditary neurodegenerative disorder characterised by progressive motor, cognitive and psychiatric impairment [1]. In recent years it has become clear that HD can be regarded as a systemic disorder affecting many organs and tissues causing peripheral as well as brain pathology [2]. Both animal and human studies indicate that some of the peripheral symptoms of HD, including weight loss and alterations in appetite, could be linked to endocrine and metabolic alterations [3, 4]. These alterations may be reflected in plasma levels of carbohydrate, lipid or protein metabolites and/or hormones related to energy metabolism. We investigated a number of metabolic factors in a 24-hour study of Huntington’s disease gene carriers (premanifest and moderate stage II/III) and controls.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
