Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Suproachoroidal fluid (SCF) obtained at the time of the surgical evacuation of a clinically significant choroidal detachment (CD) was analyzed for its chemical and cellular components in four distinct subgroups: (1) CD following cataract surgery, (2) CD (nonhemorrhagic) following glaucoma surgery, (3) CD (hemorrhagic) following glaucoma surgery, and (4) intraoperative CD during glaucoma surgery in patients with elevated episcleral venous pressure. The fluid obtained in groups 1, 2, and 4 was clear and slightly xanthochromic and contained low-molecular-weight substances in concentrations essentially equal to serum. Proteins and other high-molecular-weight substances were present in lesser amounts than in serum. Albumin, alpha1-antitrypsin, and transferrin were present in amounts approximately equal to those in serum, whereas alpha2-macroglobulin, IgM and IgG were decreased. beta-Lipoprotein and beta-complement were absent. It is postulated that this distribution of serum proteins is a manifestation of molecular sieving and is consistent with the existence of an isoporous membrane between the intravascular and suprachoroidal space with a pore diameter of 144 A. In the intraoperative choroidal effusions, there was evidence for exclusion of more of the lower, as well as all of the higher, molecular weight proteins. This suggested that the degree of molecular sieving increased with increasing filtration rate. In the hemorrhagic SCF, the distinctive character of the fluid and the protein concentrations indicated that the integrity of the capillary membrane was mardkedly disrupted, thereby allowing higher-molecular-weight proteins and cellular elements to enter the space.
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PMID:Molecular sieving in suprachoroidal fluid formation in man. 64 Jul 88

Samples of the vitreous were analysed in order to identify changes of soluble proteins in vitreo-retinal disease. The soluble proteins of the vitreous were separated on an anion exchange column (Mono-Q). The degree of neutral proteolytic activity in vitreous body was also measured. The vitreous from cataract cases without vitreoretinal disease was characterized by its low content of soluble proteins equivalent to about 1% of that of serum. Albumin and transferrin were the major identified components and their concentrations were approximately 0.85 and 0.03 g/l, respectively. In cases with vitreoretinal disease the vitreous showed changes of total soluble protein and the appearance of additional protein peaks. In patients with PVR the albumin concentration in the vitreous was found to be three times higher as compared to the control group consisting of patients with cataract. Neutral proteolytic activity in the vitreous was relatively low in both normal and pathological vitreous.
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PMID:Changes in the soluble protein of the human vitreous in vitreoretinal disease. 148 93

Many reports have pointed out that oxidative damage and disturbances in antioxidant defense systems of the lenses may play an important role in the development of cataract. In the present study the activities of glutathione peroxidase, glutathione reductase, glutathione-S-transferase, glucose-6-phosphate dehydrogenase, catalase and the level of glutathione and lipid peroxides were measured in red blood cells of galactosaemic children with cataract and without cataract. Furthermore the serum antioxidant activity and the level of uric acid. ceruloplasmin and transferrin in serum were estimated. It was found that in red blood cells of galactosaemic children with cataract the activity of glutathione reductase was slightly lower than in a control age-matched group of children and in galactosaemic children without cataract. The increase of serum antioxidant activity in both groups of galactosaemic children was also observed. Probably it could be due to the increase of the level of ceruloplasmin. Except glutathione reductase activity no other differences were found in the investigated components of the antioxidant defense systems of red blood cells and serum between galactosaemic children with cataract and those without cataract. Therefore it seems that red blood cells and serum metabolism are no good reflections of disturbances in antioxidant defense mechanisms which may be involved in the cataract development in galactosaemic children.
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PMID:Red blood cells and serum antioxidant defense systems of galactosaemic children. 208 Sep 1

Native proteins in the aqueous humor and serum from 4 patients with cataract and 2 patients with central artery occlusion were studied using micro two-dimensional isoelectric focusing-gradient gel electrophoresis combined with silver staining. A total of 51 protein spots were detected in the aqueous humor and the standard map of distribution pattern of the native proteins was established. Transferrin, albumin, alpha 2-macroglobulin, ceruloplasmin, haptoglobin, IgA and IgG were identified by an enzyme immunoassay. As a whole, the protein pattern of the aqueous humor is comparable with the pattern of the serum, except for marked quantitative differences. Most aqueous humor components have their corresponding spots found in the serum. However, there are some spots detected only in the aqueous humor but not in the serum. These spots were identified as transferrin. It is already known that the tau fraction (a desialized form of transferrin, absent in serum) is found in an extra band in the electrophoretic patterns of cerebrospinal fluid and vitreous humor. Therefore, the samples were treated with neuraminidase to determine whether or not the different aqueous transferrin spots were the tau fraction. Serum transferrin and certain aqueous transferrin spots (corresponding to serum transferrin in electrophoretic position) were transformed to tau fraction after treatment. However, some other aqueous transferrin spots (tau fraction and unreported transferrin) remained unchanged. This indicated that, in the aqueous humor, there are three kinds of transferrin molecules: ordinary serum transferrin, tau fraction and characteristic aqueous humor transferrin. Soluble proteins in the extracts of ciliary processes, iris, vitreous humor, sensory retina and lens were also studied. The characteristic transferrin pattern seen in the aqueous humor was observed only in the vitreous humor. The ciliary processes and iris revealed an identical transferrin pattern as in the serum. alpha 2-Macroglobulin, that has been thought to be too large to pass the blood-aqueous barrier, was detected in all of the aqueous humor samples. Certain larger serum proteins were observed to have their corresponding spots in the aqueous, whereas certain smaller ones were not found. These findings strongly suggested that the aqueous humor proteins are not a simple ultrafiltrate of the serum. Active transport and/or local synthesis of proteins may play important roles in determining the constitution of the proteins in the aqueous humor.
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PMID:Comparative study of native proteins in aqueous humor and serum--detection of characteristic aqueous humor proteins. 244 32

Quantitative analyses by crossed immunoelectrophoresis were carried out on 31 eyes of 26 cataract patients, age 4-80 years, to detect age changes in the human aqueous humor especially in the following aqueous humor proteins: prealbumin, albumin, alpha 1-acid glycoprotein and transferrin. There was a significant correlation between age and concentration of each of the 4 proteins. The results reported in this paper may be due to senile alteration of the pathway that serum proteins follow from the leaky vessels of the ciliary body to the anterior chamber and/or to a decrease of the aqueous flow rate with advancing age. The relationship between the ages and the aqueous humor protein levels established in this study can be utilized as controls in studying the aqueous humor proteins in uveitis and other ocular diseases.
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PMID:Increase of aqueous humor proteins with aging. 318 47

Total transferrin (Tf) concentration and relative percentages of its subfractions, ie, characteristic aqueous humor Tf (Tfah), serum Tf (Tfs) and desialized serum Tf (Tau), in the aqueous humor of 30 patients were determined. According to the total Tf concentration, these patients were divided into the group with intact or mildly damaged blood aqueous barrier (BAB), consisting of cataract, glaucoma and central retinal artery occlusion patients, and the severely damaged BAB group, consisting of uveitis patients. In the intact or mildly damaged group, Tfah, Tfs and Tau revealed constant ratios of 60%, 26% and 14%; while in the severely damaged group, a relatively high concentration of Tfs was observed. There is only Tfs in the serum, therefore, theoretically, damage of the BAB should lead to an immediate increase of the relative concentration of Tfs in the aqueous humor. Because it did not occur until the BAB had been severely damaged, the possibility of an intraocular interchange of the 3 Tf subfractions is suggested.
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PMID:Quantitative study of characteristic aqueous humor transferrin, serum transferrin and desialized serum transferrin in aqueous humor. 323 Jul 11

Recently, we described a new genetic disorder (the "hereditary hyperferritinemia-cataract syndrome") clinically characterized by the combination of elevated serum ferritin and congenital bilateral nuclear cataract, both cotransmitted as an autosomal dominant trait. In affected subjects, hyperferritinemia (ranging from 950 to 2,259 micrograms/L) is typically not related to iron overload. Differently from subjects with hereditary hemochromatosis, they have normal to low levels of serum iron and percent of transferrin saturation and absence of iron overload in parenchymal organs. When unnecessary phlebotomies are performed, they rapidly develop iron-deficient anemia, with persistently elevated levels of serum ferritin. By RNA-single-strand conformation polymorphism screening of the L-subunit ferritin gene on chromosome 19, we were able to identify in affected subjects a mutation in the 5' untranslated region. This mutation involves the five nucleotides sequence [CAGUG] of the iron-responsive element (IRE), which is critical for the posttranscriptional regulation of ferritin synthesis by means of IRE-binding protein (IRE-BP). Thus, it is very likely to provide the molecular basis for the iron-insensitive upregulation of ferritin synthesis in affected subjects.
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PMID:Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation") 878 50

The only genetic disorder with elevated serum ferritin levels so far described is hereditary HLA-related haemochromatosis. On the other hand, hereditary cataract is both genotypically as well as phenotypically heterogenous, and no specific locus or any useful marker has been yet identified. We studied two Italian families in whom a combination of elevated serum ferritin not related to iron overload and congenital nuclear cataract is transmitted as an autosomal dominant trait. Affected individuals have normal serum iron and transferrin saturation, but high serum ferritin. Red cell counts are normal and venesection therapy rapidly produces iron-deficiency anaemia. This genetic disorder, which is characterized by hyperferritinaemia, differs from hereditary HLA-related haemochromatosis mostly for the absence of iron overload. A gene responsible for the congenital nuclear cataract likely maps on chromosome 19q close to the ferritin L-subunit gene. Within families with autosomal dominant congenital cataract, serum ferritin might be an early marker of disease.
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PMID:A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract. 766 75

The laser flare cell meter (LFCM) is introduced as an instrument that quantifies noninvasive anterior chamber protein. The relationship between laser flare measurement and actual protein concentration in vivo and in vitro was assessed. The intensity of light scattering by helium neon laser beam is measured by LFCM and depends on protein concentration and molecular size. Total protein, albumin and transferrin were measured using nephelometry and the Coomassie method. We tested 63 patients undergoing routine cataract surgery. Laser flare measurements were made before surgery. The mean in vivo flare was 8.25 photons/ms, standard deviation 9.57 photons/ms. Before surgery paracentesis was performed in 61 patients. In vitro aqueous flare was 10.55 +/- 7.68) photons/ms. Biochemical analysis showed a mean anterior chamber protein concentration in 51 patients of 33.65 (+/- 27.36) mg/dl, a mean albumin concentration in 38 patients of 15.78 (+/- 11.03) mg/dl, and a mean transferrin concentration in 33 patients of 2.01 (+/- 0.88) mg/dl. Up to a "cell" count of 40/0.075 mm3 there is a statistically significant correlation. Laser flare values compared with biochemical analysis showed for total protein a correlation coefficient of r = 0.695 in vivo and r = 0.753 in vitro. A "cell" count higher than 40/0.075 mm3 produces marked overestimation of protein concentration by laser flare values. There is a statistical significant linear correlation between photon count by LFCM and total aqueous protein concentration by biochemical analysis in vivo and in vitro in normal cataractous eyes.
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PMID:[Correlation between laser tyndallometry and protein concentration in the anterior eye chamber]. 771 70

A new autosomal-dominant genetic disorder, which has been recently identified by our group is described. The disease is clinically characterized by the combination of a substantial increase of serum ferritin and early-onset bilateral cataract. Moreover, it is clearly distinguishable from genetic hemochromatosis because of: 1) normal to low serum iron and transferrin saturation, without evidence of parenchymal iron overload; 2) the dominant transmission; 3) the lack of any relation with HLA; 4) the rapid development of iron-deficient anemia when unnecessary phlebotomies are performed. The molecular basis of the new syndrome is a mutation in the L-subunit ferritin gene on chromosome 19 (19q13.3-->19qter). The mutation involves a five nucleotide sequence [CAGUG] of the iron-responsive-element (IRE), which is critical for the post-transcriptional regulation of ferritin synthesis by means of the binding with an Iron Regulatory Protein. As a consequence, ferritin synthesis is up-regulated, irrespective of cell iron status.
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PMID:["Hyperferritinemia-cataract syndrome." Description of a new hereditary disease, from anamnesis to molecular diagnosis]. 941 35


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