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Hemochromatosis: as a conformational disorder.
- Source :
-
The international journal of biochemistry & cell biology [Int J Biochem Cell Biol] 2009 Nov; Vol. 41 (11), pp. 2094-7. Date of Electronic Publication: 2009 Apr 16. - Publication Year :
- 2009
-
Abstract
- Hereditary hemochromatosis (HH) refers to a unique clinicopathologic subset of iron overload syndromes that includes the disorder related to C282Y homozygous mutation of the hemochromatosis protein (HFE), the most common form of hereditary hemochromatosis. Recent reports have highlighted analogies with the class of disorders, known as the conformational diseases whereby HFE C282Y mutant protein forms aggregates and is subsequently retained in the endoplasmic reticulum (ER). In conformational disorders, accumulation of unfolded or misfolded proteins in the ER can activate a complex cascade linked to the regulation of diverse physiologic processes, disease onset and progression. To-date, reviews on HFE C282Y HH have largely dealt with the end-stage consequence of this disorder (iron overload). However, our review focuses on upstream molecular events resulting from the mislocalization of the aggregation-prone HFE C282Y protein leading to potential advances in treatment and diagnosis.
- Subjects :
- Animals
Endoplasmic Reticulum metabolism
Endoplasmic Reticulum pathology
Hemochromatosis therapy
Hemochromatosis Protein
Histocompatibility Antigens Class I metabolism
Humans
Membrane Proteins metabolism
Protein Conformation
Hemochromatosis metabolism
Hemochromatosis pathology
Histocompatibility Antigens Class I chemistry
Membrane Proteins chemistry
Subjects
Details
- Language :
- English
- ISSN :
- 1878-5875
- Volume :
- 41
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- The international journal of biochemistry & cell biology
- Publication Type :
- Academic Journal
- Accession number :
- 19375516
- Full Text :
- https://doi.org/10.1016/j.biocel.2009.04.006