A Point Mutation in the Iron-Responsive Element of the L-Ferritin in a Family with Hereditary Hyperferritinemia Cataract Syndrome
BACKGROUND: Hereditary hyperferritinemia cataract syndrome is an autosomal dominant condition that is characterized by a high serum ferritin level and bilateral early-onset cataracts in the absence of iron overload. The genetic abnormality is identified as a mutation in the 5' regulatory region...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2005-01-01
|
| Series: | Canadian Journal of Gastroenterology |
| Online Access: | http://dx.doi.org/10.1155/2005/796963 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832556353044873216 |
|---|---|
| author | Karen Wong Yousef Barbin Subrata Chakrabarti Paul Adams |
| author_facet | Karen Wong Yousef Barbin Subrata Chakrabarti Paul Adams |
| author_sort | Karen Wong |
| collection | DOAJ |
| description | BACKGROUND: Hereditary hyperferritinemia cataract syndrome is an autosomal dominant condition that is characterized by a high serum ferritin level and bilateral early-onset cataracts in the absence of iron overload. The genetic abnormality is identified as a mutation in the 5' regulatory region of the L-ferritin messenger RNA known as the iron-responsive element (IRE). The IRE controls ferritin synthesis in response to cytoplasmic iron pools by interacting with regulatory proteins called iron responsive proteins. Mutations in the IRE decrease its affinity for iron responsive proteins, leading to the constitutive synthesis of L-ferritin which results in hyperferritinemia and the intracellular accumulation of ferritin in the lens and eventual cataract formation. |
| format | Article |
| id | doaj-art-acdff77477674c198d43daba715f053d |
| institution | Kabale University |
| issn | 0835-7900 |
| language | English |
| publishDate | 2005-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Canadian Journal of Gastroenterology |
| spelling | doaj-art-acdff77477674c198d43daba715f053d2025-02-03T05:45:38ZengWileyCanadian Journal of Gastroenterology0835-79002005-01-0119425325510.1155/2005/796963A Point Mutation in the Iron-Responsive Element of the L-Ferritin in a Family with Hereditary Hyperferritinemia Cataract SyndromeKaren Wong0Yousef Barbin1Subrata Chakrabarti2Paul Adams3Department of Medicine, University of Western Ontario, London, Ontario, CanadaDepartment of Pathology, University of Western Ontario, London, Ontario, CanadaDepartment of Pathology, University of Western Ontario, London, Ontario, CanadaDepartment of Medicine, Division of Gastroenterology, University of Western Ontario, London, Ontario, CanadaBACKGROUND: Hereditary hyperferritinemia cataract syndrome is an autosomal dominant condition that is characterized by a high serum ferritin level and bilateral early-onset cataracts in the absence of iron overload. The genetic abnormality is identified as a mutation in the 5' regulatory region of the L-ferritin messenger RNA known as the iron-responsive element (IRE). The IRE controls ferritin synthesis in response to cytoplasmic iron pools by interacting with regulatory proteins called iron responsive proteins. Mutations in the IRE decrease its affinity for iron responsive proteins, leading to the constitutive synthesis of L-ferritin which results in hyperferritinemia and the intracellular accumulation of ferritin in the lens and eventual cataract formation.http://dx.doi.org/10.1155/2005/796963 |
| spellingShingle | Karen Wong Yousef Barbin Subrata Chakrabarti Paul Adams A Point Mutation in the Iron-Responsive Element of the L-Ferritin in a Family with Hereditary Hyperferritinemia Cataract Syndrome Canadian Journal of Gastroenterology |
| title | A Point Mutation in the Iron-Responsive Element of the L-Ferritin in a Family with Hereditary Hyperferritinemia Cataract Syndrome |
| title_full | A Point Mutation in the Iron-Responsive Element of the L-Ferritin in a Family with Hereditary Hyperferritinemia Cataract Syndrome |
| title_fullStr | A Point Mutation in the Iron-Responsive Element of the L-Ferritin in a Family with Hereditary Hyperferritinemia Cataract Syndrome |
| title_full_unstemmed | A Point Mutation in the Iron-Responsive Element of the L-Ferritin in a Family with Hereditary Hyperferritinemia Cataract Syndrome |
| title_short | A Point Mutation in the Iron-Responsive Element of the L-Ferritin in a Family with Hereditary Hyperferritinemia Cataract Syndrome |
| title_sort | point mutation in the iron responsive element of the l ferritin in a family with hereditary hyperferritinemia cataract syndrome |
| url | http://dx.doi.org/10.1155/2005/796963 |
| work_keys_str_mv | AT karenwong apointmutationintheironresponsiveelementofthelferritininafamilywithhereditaryhyperferritinemiacataractsyndrome AT yousefbarbin apointmutationintheironresponsiveelementofthelferritininafamilywithhereditaryhyperferritinemiacataractsyndrome AT subratachakrabarti apointmutationintheironresponsiveelementofthelferritininafamilywithhereditaryhyperferritinemiacataractsyndrome AT pauladams apointmutationintheironresponsiveelementofthelferritininafamilywithhereditaryhyperferritinemiacataractsyndrome AT karenwong pointmutationintheironresponsiveelementofthelferritininafamilywithhereditaryhyperferritinemiacataractsyndrome AT yousefbarbin pointmutationintheironresponsiveelementofthelferritininafamilywithhereditaryhyperferritinemiacataractsyndrome AT subratachakrabarti pointmutationintheironresponsiveelementofthelferritininafamilywithhereditaryhyperferritinemiacataractsyndrome AT pauladams pointmutationintheironresponsiveelementofthelferritininafamilywithhereditaryhyperferritinemiacataractsyndrome |