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Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
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Amyloid Fibrils

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Corrosion02:49

Corrosion

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Lysosomal Hydrolases

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Related Experiment Video

Updated: Jul 14, 2026

Assessing Iron Deposition in the Brains of 5xFAD Mice by Perls'/DAB Staining
07:32

Assessing Iron Deposition in the Brains of 5xFAD Mice by Perls'/DAB Staining

Published on: May 23, 2025

Iron storage disease: facts, fiction and progress.

Ernest Beutler1

  • 1Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA. beutler@scripps.edu

Blood Cells, Molecules & Diseases
|June 2, 2007
PubMed
Summary

Hereditary hemochromatosis, the most common iron storage disease, involves hepcidin and ferroportin regulation. While the HFE genotype is common, severe disease is rare and treatable with phlebotomy.

Related Experiment Videos

Last Updated: Jul 14, 2026

Assessing Iron Deposition in the Brains of 5xFAD Mice by Perls'/DAB Staining
07:32

Assessing Iron Deposition in the Brains of 5xFAD Mice by Perls'/DAB Staining

Published on: May 23, 2025

Area of Science:

  • Biochemistry
  • Genetics
  • Internal Medicine

Background:

  • Iron storage diseases encompass hereditary and acquired forms, with HFE-associated hemochromatosis being the most prevalent hereditary type.
  • Body iron content is tightly regulated through absorption control, a process significantly influenced by the peptide hormone hepcidin.
  • Hepcidin regulates iron absorption and macrophage iron sequestration by interacting with the ferroportin protein.

Purpose of the Study:

  • To review the current understanding of iron storage diseases, focusing on HFE-associated hemochromatosis.
  • To elucidate the roles of hepcidin and ferroportin in iron homeostasis and disease pathogenesis.
  • To discuss the prevalence, diagnosis, and treatment of hereditary hemochromatosis and secondary iron overload disorders.

Main Methods:

  • Review of recent scientific literature on iron metabolism and storage diseases.
  • Analysis of epidemiological data regarding hereditary hemochromatosis prevalence and genotype-phenotype correlations.
  • Synthesis of information on the mechanisms of hepcidin and ferroportin function and dysfunction.

Main Results:

  • Most hereditary hemochromatosis cases stem from dysregulation or defects in hepcidin or ferroportin.
  • While HFE gene mutations and associated biochemical changes are common in Europeans, the severe disease phenotype is rare.
  • Factors influencing severe disease manifestation, such as modifying genes and alcohol consumption, appear to play modest roles.

Conclusions:

  • Hereditary hemochromatosis is effectively treated by phlebotomy.
  • Secondary iron overload conditions benefit from chelation therapy, with new oral agents improving patient outcomes.
  • Despite advances, significant knowledge gaps remain in iron homeostasis regulation, presenting ongoing research challenges.