Hereditary Hyperferritinemia Cataract Syndrome: Ocular, Genetic, and Biochemical Findings

Ismail, A R; Lachlan, Katherine; Mumford, Andrew D; Temple, I. K.; Hodgkins, P R

doi:10.1177/112067210601600125

Cited by 18 publications

(16 citation statements)

References 8 publications

(8 reference statements)

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“…Some investigators have suggested that opacities of very early onset or of higher density may be due to a more severe genetic mutation of the L-ferritin subunits. 13 In conclusion, HHCS is a recently described cause of inherited cataracts. In patients with characteristic bilateral lenticular opacities and a positive family history, laboratory studies can confirm the diagnosis.…”

Section: Discussionmentioning

confidence: 98%

Hereditary hyperferritinemia-cataract syndrome

Christiansen¹,

Mohney

2007

Journal of American Association for Pediatric Ophthalmology and

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Section: Discussionmentioning

confidence: 98%

Hereditary hyperferritinemia-cataract syndrome

Christiansen¹,

Mohney

2007

Journal of American Association for Pediatric Ophthalmology and

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“…The six-nucleotide loop is connected to a stem that is separated into an upper and lower part by an unpaired bulge C residue that divides the stem in the middle. IRE sequences are highly conserved, and mutations of the IRE can cause iron dysregulation and diseases, suggesting a significant role of IRP/IRE regulation in iron homeostasis (Kato et al, 2001; Ismail et al, 2006). IREs are recognized and bound by IRP proteins, but the effect of IRP binding depends on the position of the IRE in the mRNA targets.…”

Section: Regulation Of Intracellular Iron Homeostasis By the Irp/ire mentioning

confidence: 99%

The physiological functions of iron regulatory proteins in iron homeostasis - an update

2014

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Iron regulatory proteins (IRPs) regulate the expression of genes involved in iron metabolism by binding to RNA stem-loop structures known as iron responsive elements (IREs) in target mRNAs. IRP binding inhibits the translation of mRNAs that contain an IRE in the 5′untranslated region of the transcripts, and increases the stability of mRNAs that contain IREs in the 3′untranslated region of transcripts. By these mechanisms, IRPs increase cellular iron absorption and decrease storage and export of iron to maintain an optimal intracellular iron balance. There are two members of the mammalian IRP protein family, IRP1 and IRP2, and they have redundant functions as evidenced by the embryonic lethality of the mice that completely lack IRP expression (Irp1-/-/Irp2-/- mice), which contrasts with the fact that Irp1-/- and Irp2-/- mice are viable. In addition, Irp2-/- mice also display neurodegenerative symptoms and microcytic hypochromic anemia, suggesting that IRP2 function predominates in the nervous system and erythropoietic homeostasis. Though the physiological significance of IRP1 had been unclear since Irp1-/- animals were first assessed in the early 1990s, recent studies indicate that IRP1 plays an essential function in orchestrating the balance between erythropoiesis and bodily iron homeostasis. Additionally, Irp1-/- mice develop pulmonary hypertension, and they experience sudden death when maintained on an iron-deficient diet, indicating that IRP1 has a critical role in the pulmonary and cardiovascular systems. This review summarizes recent progress that has been made in understanding the physiological roles of IRP1 and IRP2, and further discusses the implications for clinical research on patients with idiopathic polycythemia, pulmonary hypertension, and neurodegeneration.

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“…Las opacidades del cristalino en los pacientes con SHHC presentan un aspecto característico y muy similar en todos ellos 7 . Aunque la forma en que han sido descritas es variable [8][9][10] , todas pueden representar diferentes maneras de definir alteraciones parecidas.…”

Section: Discussionunclassified