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

18 Citations (Scopus)

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

Fingerprint

Apoferritins
Ferritins
Type C Niemann-Pick Disease
Protein Isoforms
Fetus
Tissue
Liver
Niemann-Pick Diseases
Cholesterol
Metabolites
Spleen
Iron
Genes
Monoclonal Antibodies
Rabbits
Lung
Defects

Keywords

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

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

Cite this

@article{03c132f7beb94547951474213413e4dc,
title = "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",
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.",
keywords = "Ferritin synthesis, Iron transfer, Niemann-Pick type C, Vesicular traffic",
author = "Helen Christomanou and Vanier, {Marie T.} and Paolo Santambrogio and Paolo Arosio and Kleijer, {Wim J.} and Klaus Harzer",
year = "2000",
doi = "10.1006/mgme.2000.3004",
language = "English",
volume = "70",
pages = "196--202",
journal = "Molecular Genetics and Metabolism",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "3",

}

TY - JOUR

T1 - Deficient ferritin immunoreactivity in tissues from Niemann-Pick type C patients

T2 - Extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group

AU - Christomanou, Helen

AU - Vanier, Marie T.

AU - Santambrogio, Paolo

AU - Arosio, Paolo

AU - Kleijer, Wim J.

AU - Harzer, Klaus

PY - 2000

Y1 - 2000

N2 - 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.

AB - 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.

KW - Ferritin synthesis

KW - Iron transfer

KW - Niemann-Pick type C

KW - Vesicular traffic

UR - http://www.scopus.com/inward/record.url?scp=0033855448&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033855448&partnerID=8YFLogxK

U2 - 10.1006/mgme.2000.3004

DO - 10.1006/mgme.2000.3004

M3 - Article

C2 - 10924274

AN - SCOPUS:0033855448

VL - 70

SP - 196

EP - 202

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

IS - 3

ER -