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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
- Source :
- Molecular Genetics and Metabolism. 70:196-202
- Publication Year :
- 2000
- Publisher :
- Elsevier BV, 2000.
-
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/lysosomal system. We hypothesize that 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.
- Subjects :
- Gene isoform
Immunodiffusion
congenital, hereditary, and neonatal diseases and abnormalities
Pathology
medicine.medical_specialty
medicine.drug_class
Iron
Endocrinology, Diabetes and Metabolism
Blotting, Western
Spleen
Endosomes
Monoclonal antibody
Biochemistry
Immunoglobulin G
Fetus
Endocrinology
Niemann-Pick C1 Protein
hemic and lymphatic diseases
Adrenal Glands
Genetics
medicine
Humans
Protein Isoforms
Molecular Biology
Niemann-Pick Diseases
Membrane Glycoproteins
biology
Intracellular Signaling Peptides and Proteins
Proteins
nutritional and metabolic diseases
medicine.disease
Molecular biology
Ferritin
Cholesterol
medicine.anatomical_structure
Liver
Polyclonal antibodies
Child, Preschool
Ferritins
biology.protein
Female
NPC1
Carrier Proteins
Lysosomes
Niemann–Pick disease
Subjects
Details
- ISSN :
- 10967192
- Volume :
- 70
- Database :
- OpenAIRE
- Journal :
- Molecular Genetics and Metabolism
- Accession number :
- edsair.doi.dedup.....a2b3414251e43dda607a36e86ce9752b
- Full Text :
- https://doi.org/10.1006/mgme.2000.3004