LDOC1 expression in fibroblasts of patients with Down syndrome

Michele Salemi, Concetta Barone, Carmelo Romano, Salvatore Caniglia, Alda Ragalmuto, Francesco Scillato, Maria Grazia Salluzzo, Cataldo Scavuzzo, Mirella Vinci, Roberto Salluzzo, Corrado Romano, Paolo Bosco

Research output: Contribution to journalArticlepeer-review

Abstract

Down syndrome (DS) is characterised by intellectual disability and is caused by trisomy 21. Apoptosis is a programmed cell death process and is involved in neurodegenerative diseases such as Alzheimer. People with DS can develop some traits of Alzheimer disease at an earlier age than subjects without trisomy 21. The leucine zipper, down regulated in cancer 1 (LDOC1) appears to be involved in the apoptotic pathways. The aim of the present work was to detect the presence of intracellular synthesis of LDOC1 protein and LDOC1 mRNA in fibroblast cultures from DS subjects. The western blot shows the presence of LDOC1 protein in fibroblasts of DS subjects but no evidence of LDOC1 protein in fibroblasts of normal subjects. LDOC1 gene mRNA expression is increased in fibroblasts from DS subjects compared to fibroblasts from normal subjects. The data obtained from this study strengthen the hypothesis that the over-expression of LDOC1 gene could play a role in determining the phenotype of individuals with DS but does not exclude that this results from apoptotic mechanisms.

Original languageEnglish
Pages (from-to)139-141
Number of pages3
JournalOpen Life Sciences
Volume10
Issue number1
DOIs
Publication statusPublished - Jan 1 2015

Keywords

  • Down syndrome
  • fibroblast
  • LDOC1 gene
  • mRNA
  • qRT-PCR expression

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Microbiology(all)
  • Neuroscience(all)

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