Article Text

Wet biomarkers
F09 The study on molecular changes related to energy metabolism in Huntington's disease subjects: looking for biomarkers
  1. J Krzysztoń-Russjan1,
  2. D Zielonka2,
  3. J Jackiewicz1,
  4. S Kuśmirek1,
  5. I Bubko1,
  6. A Klimberg2,
  7. JT Marcinkowski2,
  8. EL Anuszewska1
  1. 1National Medicines Institute, Warsaw, Poland
  2. 2Poznan University of Medical Science, Poznan, Poland


Huntington's disease (HD) is a neurodegenerative disorder characterised by a progressive motor and cognitive decline and psychiatric symptoms. The origin of molecular and biochemical disturbances in HD is the genetic defect in the HTT gene, autosomally dominantly inherited. The altered huntingtin protein is ubiquitously expressed in the Central Nervous System as well as in peripheral tissues. The aim of the study was to detect the metabolism changes on the transcription level in blood cells in HD subjects (n=29) with regards to the control, healthy subjects (n=28). The gene expression analysis was performed using quantitative PCR and StellAarray system. A panel of 94 genes involved in glycolysis, Krebs cycle, electron transport chain, BCAAs metabolism and other processes were selected to study. The results calculations were conducted by Global Pattern Recognition software with ΔΔCt type of analysis application. The comparison between HD and control revealed statistically significant Global Pattern Recognition fold change (FC) values for six transcripts, including a decrease of BDNF (−2.11), LDHA (−1.16) and an increase of BCKDK (1.34), MAOB (3.07), SLC2A4 (1.64) and TGM2 (1.8). Multiple analyses in sub-cohorts distinguished by gender, age, BMI, calf circumference, nutrition status, CAG number repeats, TFC, UHDRS motor and HD time from onset also showed 34 transcript FCs. The widest FC ranges decrease concerned to BDNF (from −1.66 to −3.6), BCAT2 (from 1.85 to −1.42) and increase to MAOB (from 1.87 to 7.89) transcript levels that coincided together with the length of HD duration period and the HD progress.

  • HD
  • energy metabolism
  • trancriptomic biomarkers

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