Deficient Ferritin Immunoreactivity in Visceral Organs from Four Patients with Niemann-Pick Disease Type C
| Autor: | H. Christomanou, K. Harzer, J. Kellermann, R.P. Link |
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| Rok vydání: | 1995 |
| Předmět: |
Male
Pathology medicine.medical_specialty Immunoblotting Spleen Biology Biochemistry chemistry.chemical_compound Immunoblot Analysis medicine Animals Humans Niemann-Pick Diseases Antiserum Niemann–Pick disease type C Cholesterol Infant medicine.disease Immunohistochemistry Ferritin medicine.anatomical_structure Liver chemistry Child Preschool Ferritins Immunology biology.protein Etiology Female Rabbits |
| Zdroj: | Biochemical and Molecular Medicine. 55:105-115 |
| ISSN: | 1077-3150 |
| Popis: | Ferritin, the major iron storage protein, was found to be undetectable on immunoblot analysis of spleen and liver extracts from four patients with Niemann-Pick disease type C (NPC). The patients had died from different clinical forms of this storage disease of still unknown etiology. The absence of ferritin immunoreactivity was shown using two different antisera, raised in rabbits, against ferritin from human spleen containing predominantly light-chain subunits (L-ferritin). Further evidence of absent L-ferritin in visceral tissues was provided by immunohistochemical studies performed in one of the four NPC patients, However, heavy-chain and light-chain ferritin mRNAs could be identified in cultured fibroblasts from this patient. The finding of deficient ferritin immunoreactivity is suggestive of an additional biochemical abnormality that is as marked as the known impairment of the transport of exogenously derived cholesterol in this complex lysosomal storage disorder. |
| Databáze: | OpenAIRE |
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