A Point Mutation in the Iron-Responsive Element of the L-Ferritin in a Family with Hereditary Hyperferritinemia Cataract Syndrome

Wong, Karen; Barbin, Yousef P.; Chakrabarti, Subrata; Adams, Paul C.

doi:10.1155/2005/796963

Cited by 13 publications

(9 citation statements)

References 13 publications

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“…Prior reports on HHCS have originated from Western Europe, 1,2,4-15 North America, [16][17][18][19][20] Australia, 21,22 and India. 23 These studies have also shown that distinct chromosomal mutations in the iron responsive element of the L-ferritin subunit are responsible for HHCS; these mutations prevent binding of iron (which provides negative feedback) and lead to the unregulated production of ferritin.…”

Section: Discussionmentioning

confidence: 99%

Hereditary hyperferritinemia-cataract syndrome

Christiansen¹,

Mohney

2007

Journal of American Association for Pediatric Ophthalmology and

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Section: Discussionmentioning

confidence: 99%

Hereditary hyperferritinemia-cataract syndrome

Christiansen¹,

Mohney

2007

Journal of American Association for Pediatric Ophthalmology and

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“…Patients with HHCS do not develop iron overload, although common HFE mutations, especially H63D, may occur in HHCS patients coincidentally. L-ferritin deposition in the ocular lens causes bilateral cataracts at an early age [15][16][17]. It may be possible to have an elevated ferritin on this basis without cataracts [18].…”

Section: Assessment Of Patients With An Elevated Ferritin Concentratimentioning

confidence: 99%

A diagnostic approach to hyperferritinemia with a non-elevated transferrin saturation

Adams¹,

Barton²

2011

Journal of Hepatology

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Elevated serum ferritin concentrations are common in clinical practice. In this review, we provide an approach to interpreting the serum ferritin elevation in relationship to other clinical parameters including the patient history, transferrin saturation, serum concentrations of alanine, and aspartate aminotransferases (ALT, AST), testing for HFE mutations, liver imaging, liver biopsy, and liver iron concentration. We used observations from a large series of patients with hepatic iron overload documented by liver iron concentration measurement from two referral practices as a gold standard to guide the interpretation of the predictive values of non-invasive iron tests. Three case studies illustrate common problems in interpreting iron blood tests.

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“…Examples of specific recognition motifs are TAR (Richter et al 2002) and RBE (RRE) (Hung et al 2000;Lesnik et al 2002) motifs of HIV-1 and the IRE motifs found in mRNAs related to iron metabolism (Theil, 2000 ;Pantopoulos, 2004). Many riboregulators, riboswitches, and aptamers form potentially highly structured regions for protein or small molecule interaction, and mutations in these structures may result in a loss of regulation and a corresponding disease state (Sobczak & Krzyzosiak, 2002 ;Wong et al 2005). In the remainder of this review we will focus on general RNA structural motifs, their identification, classification, types, and roles.…”

Section: Specific Recognition Motifsmentioning

confidence: 99%

RNA structural motifs: building blocks of a modular biomolecule

Hendrix

Brenner

Holbrook

2005

Quart. Rev. Biophys.

197

141

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Abstract. RNAs are modular biomolecules, composed largely of conserved structural subunits, or motifs. These structural motifs comprise the secondary structure of RNA and are knit together via tertiary interactions into a compact, functional, three-dimensional structure and are to be distinguished from motifs defined by sequence or function. A relatively small number of structural motifs are found repeatedly in RNA hairpin and internal loops, and are observed to be composed of a limited number of common 'structural elements '. In addition to secondary and tertiary structure motifs, there are functional motifs specific for certain biological roles and binding motifs that serve to complex metals or other ligands. Research is continuing into the identification and classification of RNA structural motifs and is being initiated to predict motifs from sequence, to trace their phylogenetic relationships and to use them as building blocks in RNA engineering.

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A Point Mutation in the Iron-Responsive Element of the L-Ferritin in a Family with Hereditary Hyperferritinemia Cataract Syndrome

Abstract: The combination of early-onset cataracts and an elevated ferritin level should suggest this genetic syndrome.

Cited by 13 publications

References 13 publications

Hereditary hyperferritinemia-cataract syndrome

Hereditary hyperferritinemia-cataract syndrome

A diagnostic approach to hyperferritinemia with a non-elevated transferrin saturation

RNA structural motifs: building blocks of a modular biomolecule

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