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  1. J Krzysztoń-Russjan,
  2. K Sitarz,
  3. EL Anuszewska
  1. National Medicines Institute, Chelmska 30/34 Str., 00-725 Warsaw, Poland


Background Several energy metabolism abnormalities were described in Huntington’s disease (HD) patients not only in central nervous system but also in different peripheral tissues. Cellular models of HD are essential for evaluation the biology of mutant HTT gene for CAG-repeat instability and its impact on function of the several pathological pathways. The development of the in vitrocell culture model would greatly facilitate the ability to study gene expression and regulation within human tissues.

Aim The aim of this study is to evaluate useful human cellular model for in vitroenergy metabolism modelling of cells with HTT gene mutation and biomarkers investigation.

Methods Human B-lymphocytes, fibroblasts and hiPSCs- 3 pairs of cell lines; Coriell Institute for Medical Research (USA)- with and without pathological CAG repeat numbers in HTTgene (control).

The optimisation of cellular model included: determination of optimal culture conditions, hiPSC cells pluripotency detection and the passage (p) range without changes in transcripts profiles involved in energy metabolism.

Results We demonstrate that B-lymphocytes and fibroblasts cells stably express all markers examined to at least p10. For B-lymphocytes cells the statistically significant increased expression concerned TNFRSF17 (FC = 3,17) but decreased expression was found for CD36 (FC=-21,12) and IL8 (FC=-2,61) transcripts. For fibroblasts the increased level concerned PPARGC1A (FC = 6,81), AQP9 (FC = 9,39), UCLH1 (18,39), CD36 (FC = 3,52) and decrease concerned only IL8 (FC=-2,87) transcripts and were observed from p1 through to p6. The hiPSC transcripts profiling is continued.

Conclusions The profiles of transcripts of the genes involved in energy metabolism are tissue specific.

  • energy metabolism
  • human cell culture model

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