Alteration of SREBP activation in liver of trisomy 21 fetuses

Luisa Diomede, Mario Salmona, Diego Albani, Marco Bianchi, Alessandra Bruno, Sarah Salmona, Umberto Nicolini

Research output: Contribution to journalArticlepeer-review


We previously reported that trisomy 21 (T21) fetuses have an intrinsic lipid metabolism abnormality resulting in higher serum cholesterol levels than their matched controls. In an attempt to clarify the biochemical basis of this derangement we analyzed the liver cholesterol levels and activation of the sterol regulatory element binding proteins SREBP-1 and SREBP-2. We report here for the first time that SREBP-1 and SREBP-2 are present in human fetal liver and their activation follows a different regulatory pattern. Moreover T21 fetuses show a peculiar pattern of SREBP activation which, at variance from control fetuses, involves sterol-independent maturation of SREBP-1. Multiple defects accompanied the lipid derangement in T21, resulting in high circulating and tissue cholesterol. This may serve as an early biochemical marker of an unknown, possibly genetically determined mechanism, whose consequence on lipid homeostasis during postnatal and adult life is still not understood.

Original languageEnglish
Pages (from-to)499-503
Number of pages5
JournalBiochemical and Biophysical Research Communications
Issue number2
Publication statusPublished - Jul 5 1999

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology


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