Cholesteryl ester levels are elevated in the caudate and putamen of Huntington's disease patients

Sci Rep. 2020 Nov 20;10(1):20314. doi: 10.1038/s41598-020-76973-8.

Abstract

Huntington's disease (HD) is an autosomal dominant neurodegenerative illness caused by a mutation in the huntingtin gene (HTT) and subsequent protein (mhtt), to which the brain shows a region-specific vulnerability. Disturbances in neural cholesterol metabolism are established in HD human, murine and cell studies; however, cholesteryl esters (CE), which store and transport cholesterol in the brain, have not been investigated in human studies. This study aimed to identify region-specific alterations in the concentrations of CE in HD. The Victorian Brain Bank provided post-mortem tissue from 13 HD subjects and 13 age and sex-matched controls. Lipids were extracted from the caudate, putamen and cerebellum, and CE were quantified using targeted mass spectrometry. ACAT 1 protein expression was measured by western blot. CE concentrations were elevated in HD caudate and putamen compared to controls, with the elevation more pronounced in the caudate. No differences in the expression of ACAT1 were identified in the striatum. No remarkable differences in CE were detected in HD cerebellum. The striatal region-specific differences in CE profiles indicate functional subareas of lipid disturbance in HD. The increased CE concentration may have been induced as a compensatory mechanism to reduce cholesterol accumulation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetyl-CoA C-Acetyltransferase / analysis
  • Acetyl-CoA C-Acetyltransferase / metabolism
  • Aged
  • Aged, 80 and over
  • Animals
  • Case-Control Studies
  • Caudate Nucleus / chemistry*
  • Caudate Nucleus / pathology
  • Cerebellum / metabolism
  • Cerebellum / pathology
  • Cholesterol Esters / analysis*
  • Cholesterol Esters / metabolism
  • Female
  • Humans
  • Huntington Disease / pathology*
  • Male
  • Mass Spectrometry
  • Mice
  • Middle Aged
  • Putamen / chemistry*
  • Putamen / pathology

Substances

  • Cholesterol Esters
  • ACAT1 protein, human
  • Acetyl-CoA C-Acetyltransferase