Hereditary hyperferritinemia cataract syndrome in three unrelated families of western Greek origin caused by the C39 > G mutation of L-ferritin IRE
Φόρτωση...
Ημερομηνία
Συγγραφείς
Papanikolaou, G.
Chandrinou, H.
Bouzas, E.
Contopoulos-Ioannidis, D.
Kalotychou, V.
Prentzas, K.
Lilakos, K.
Asproudis, I.
Palaiologou, D.
Premetis, E.
Τίτλος Εφημερίδας
Περιοδικό ISSN
Τίτλος τόμου
Εκδότης
Περίληψη
Τύπος
Είδος δημοσίευσης σε συνέδριο
Είδος περιοδικού
peer reviewed
Είδος εκπαιδευτικού υλικού
Όνομα συνεδρίου
Όνομα περιοδικού
Blood Cells Molecules and Diseases
Όνομα βιβλίου
Σειρά βιβλίου
Έκδοση βιβλίου
Συμπληρωματικός/δευτερεύων τίτλος
Περιγραφή
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a well-characterized autosomal dominant disease caused by mutations in the iron responsive element (IRE) of ferritin L-chain (FTL) mRNA. Mutations in the IRE result in reduced binding of the trans-acting iron regulatory proteins (IRPs) and hence in upregulation of ferritin L-chain synthesis. The disease is characterized by increased L-ferritin in serum and tissues and early onset of bilateral cataracts. Iron metabolism is normal, and there is no tissue iron overload. At least 25 nucleotide substitutions and deletions in the L-ferritin IRE have been described in families with HHCS, originating from diverse European, Australian and North American populations. We studied the molecular pathogenesis of HHCS in three unrelated kinderships of western Greek origin, with 19 affected members. We identified a relatively rare C39G mutation located in the hexanucleotide loop of L-ferritin IRE. Computational analysis of mRNA folding of mutant FTL IRE predicted that the C39 > G mutation leads to a rearrangement of base pairing in this critical region, which is likely to modify the IRP binding affinity. All subjects with HHCS were heterozygotes for the same C39G mutation. Clinical and laboratory phenotypes were described. Moreover, there was evidence of an association between this FTL IRE stem-loop mutation and very high ferritin levels. Our findings broaden the list of populations where HHCS has been described. (c) 2005 Elsevier Inc. All rights reserved.
Περιγραφή
Λέξεις-κλειδιά
hyperferritinemia, cataract, greece, ire, iron, iron overload, iron-responsive element, l-subunit gene, serum ferritin, messenger-rna, hemochromatosis, prevalence, lens, identification, prediction, overload
Θεματική κατηγορία
Παραπομπή
Σύνδεσμος
<Go to ISI>://000234880000006
http://ac.els-cdn.com/S1079979605001865/1-s2.0-S1079979605001865-main.pdf?_tid=8ef138e2d968bdfe0391eeac57ceb2a9&acdnat=1334231114_ef7ceeaa7009a5faf20a50986cb96fbb
http://ac.els-cdn.com/S1079979605001865/1-s2.0-S1079979605001865-main.pdf?_tid=8ef138e2d968bdfe0391eeac57ceb2a9&acdnat=1334231114_ef7ceeaa7009a5faf20a50986cb96fbb
Γλώσσα
en
Εκδίδον τμήμα/τομέας
Όνομα επιβλέποντος
Εξεταστική επιτροπή
Γενική Περιγραφή / Σχόλια
Ίδρυμα και Σχολή/Τμήμα του υποβάλλοντος
Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών και Τεχνολογιών. Τμήμα Βιολογικών Εφαρμογών και Τεχνολογιών