Deficient ferritin immunoreactivity in tissues from Niemann-Pick type C patients: Extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group

Helen Christomanou, Marie T. Vanier, Paolo Santambrogio, Paolo Arosio, Wim J. Kleijer, Klaus Harzer

Research output: Contribution to journalArticle

Abstract

Previous studies employing rabbit polyclonal anti-human liver ferritin have shown an absence of L ferritin immunoreactivity in liver and spleen tissue from patients with Niemann-Pick disease type C1 (NPC1). The great majority of NPC cases is caused by defects of the NPC1 gene, and a minority by those of another (NPC2). In this study using polyclonal and monoclonal antibodies we show the deficiency of H and L ferritin isoforms in various NPC tissues, including fetal NPC1, not previously described. In particular, evidence is provided for deficiency in H and L ferritins in tissues, except lung, from a patient with Niemann-Pick disease type C2 (NPC2). The present findings indicate that H and L ferritins are deficient in both NPC types characterized by accumulation of unesterified cholesterol and additional metabolites in the endosomal/lysosoreal system. We hypothesize float the lesions in NPC1 and NPC2 block the intracellular utilization not only of cholesterol, but also that of iron for the synthesis of cytosolic ferritin. (C) 2000 Academic Press.

Original languageEnglish
Pages (from-to)196-202
Number of pages7
JournalMolecular Genetics and Metabolism
Volume70
Issue number3
DOIs
Publication statusPublished - 2000

Keywords

  • Ferritin synthesis
  • Iron transfer
  • Niemann-Pick type C
  • Vesicular traffic

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

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