A new mutation (G51C) in the iron‐responsive element (IRE) of l‐ferritin associated with hyperferritinaemia–cataract syndrome decreases the binding affinity of the mutated IRE for iron‐regulatory proteins

Hereditary hyperferritinaemia–cataract syndrome is an autosomal dominant disorder characterized by a constitutively increased synthesis of l‐ferritin in the absence of iron overload. The disorder is associated with point mutations in the iron‐responsive element (IRE) of l‐ferritin mRNA. We report a...

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Bibliographic Details
Published in:British journal of haematology 2000-03, Vol.108 (3), p.480-482
Main Authors: CAMASCHELLA, C, ZECCHINA, G, LOCKITCH, G, ROETTO, A, CAMPANELLA, A, AROSIO, P, LEVI, S
Format: Article
Language:English
Subjects:
Adolescent
Adult
Anemia - blood
Anemia - genetics
Biological and medical sciences
Cataract - blood
Cataract - genetics
Electrophoresis, Polyacrylamide Gel
Errors of metabolism
Female
Ferritins - blood
Humans
Iron-Regulatory Proteins
Iron-Sulfur Proteins - genetics
Lens diseases
Male
Medical sciences
Metabolic diseases
Middle Aged
Miscellaneous hereditary metabolic disorders
Ophthalmology
Point Mutation
RNA, Messenger - genetics
RNA-Binding Proteins - genetics
Sequence Analysis, DNA
Syndrome
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Summary:Hereditary hyperferritinaemia–cataract syndrome is an autosomal dominant disorder characterized by a constitutively increased synthesis of l‐ferritin in the absence of iron overload. The disorder is associated with point mutations in the iron‐responsive element (IRE) of l‐ferritin mRNA. We report a new mutation, G51C, identified in two members of a Canadian family, presenting a moderate increase in serum ferritin and a clinically silent bilateral cataract. Gel retardation assays showed that the binding of the mutated IRE to iron‐regulatory proteins (IRPs) was reduced compared with the wild type. Structural modelling predicted that the G51C induces a rearrangement of base pairing at the lateral bulge of the IRE structure which is likely to modify IRE conformation.
ISSN:0007-1048
1365-2141
DOI:10.1046/j.1365-2141.2000.01920.x