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The effect of ascorbic acid and ferric ammonium citrate on iron uptake and storage in lens epithelial cells.抗坏血酸和柠檬酸铁铵对晶状体上皮细胞铁摄取和储存的影响。
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Analysis of ferritins in lymphoblastoid cell lines and in the lens of subjects with hereditary hyperferritinemia-cataract syndrome.遗传性高铁蛋白血症-白内障综合征患者的淋巴母细胞系及晶状体中铁蛋白的分析。
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The small heat-shock protein, alphaB-crystallin, has a variable quaternary structure.小分子热休克蛋白αB-晶状体蛋白具有可变的四级结构。
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遗传性高铁蛋白血症白内障综合征中的晶状体含有L-铁蛋白的晶体沉积物。

The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin.

作者信息

Mumford A D, Cree I A, Arnold J D, Hagan M C, Rixon K C, Harding J J

机构信息

Haemostasis Research Group, MRC Clinical Sciences Centre, Imperial College School of Medicine, Hammersmith Hospital, Du Cane Road, London W12 0NN.

出版信息

Br J Ophthalmol. 2000 Jul;84(7):697-700. doi: 10.1136/bjo.84.7.697.

DOI:10.1136/bjo.84.7.697
PMID:10873976
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1723562/
Abstract

BACKGROUND/AIM: Hereditary hyperferritinaemia cataract syndrome (HHCS) is an autosomal dominant disorder characterised by elevated serum L-ferritin and bilateral cataracts. The ocular manifestations of this disorder are poorly studied. This study therefore sought to determine the origin of cataracts in HHCS.

METHODS

L-ferritin ELISA, immunohistochemical and ultrastructural analysis of a lens nucleus from an HHCS individual.

RESULTS

The HHCS lens L-ferritin content was 147 microg/g dry weight of lens compared with <16 microg/g for a non-HHCS control cataract lens. The cataract comprised discrete crystalline inclusions with positive staining with anti-L-ferritin but not anti-H-ferritin.

CONCLUSIONS

This unusual finding of crystalline opacities in the lens may be unique to HHCS and is likely to result from disturbed metabolism of L-ferritin within the lens or an abnormal interaction between L-ferritin and lens proteins.

摘要

背景/目的：遗传性高铁蛋白血症白内障综合征（HHCS）是一种常染色体显性疾病，其特征为血清L-铁蛋白升高和双侧白内障。该疾病的眼部表现研究较少。因此，本研究旨在确定HHCS中白内障的成因。

方法

对一名HHCS患者的晶状体核进行L-铁蛋白酶联免疫吸附测定、免疫组织化学和超微结构分析。

结果

HHCS晶状体的L-铁蛋白含量为147微克/克晶状体干重，相比之下，非HHCS对照白内障晶状体的含量<16微克/克。白内障由离散的晶体包涵体组成，抗L-铁蛋白染色呈阳性，抗H-铁蛋白染色呈阴性。

结论

晶状体中这种晶体混浊的异常发现可能是HHCS所特有的，可能是由于晶状体中L-铁蛋白代谢紊乱或L-铁蛋白与晶状体蛋白之间的异常相互作用所致。