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)

Aqueous humour and blood from twenty cataractous patients with chronic anterior uveitis and the monopauciarticular form of juvenile rheumatoid arthritis were tested for immunoglobulins G, A, and M and for autoantibodies, particularly those against nuclear antigens. The aqueous immunoglobulins were raised in the majority of patients even when the eyes were normal biomicroscopically. Raised IgG antinuclear antibodies were found in 85% of the aqueous samples. Information obtained from the study of aqueous humour from fourteen patients with senile cataract was used for statistical analysis of these data. The presence of high molecular weight immunoglobulins in the aqueous humour from patients with Still's disease suggests an abnormal blood-ocular barrier which may be responsible for the recurrence which follows an ostensibly treated primary attack of uveitis. The presence of antinuclear antibody in a few aqueous samples without a concomitant rise in the blood levels is suggestive of local antibody synthesis.
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PMID:Immunoglobulins and antinuclear antibodies in aqueous humour from patients with juvenile "rheumatoid" arthritis (Still's disease). 30 64

Iron, an essential element for many important cellular functions in all living organisms, can catalyze the formation of potentially toxic free radicals. Excessive iron is sequestered by ferritin in a nontoxic and readily available form in a cell. Ferritin is composed of 24 subunits of different proportions of two functionally distinct subunits: ferritin H and L. The expression of ferritin is under delicate control and is regulated at both the transcriptional and post-transcriptional levels by iron, cytokines, hormones, and oxidative stress. Mutations in the ferritin gene cause the hereditary hyperferritinemia-cataract syndrome and neuroferritinopathy. Hyperferritinemia is associated with inflammation, infections, and malignancies. While elevated levels of ferritin are characteristic of adult-onset Still's disease and hemophagocytic syndrome, both associated with inflammation, it has scantly been evaluated in other autoimmune diseases. In this review, we describe ferritin structure and function, hyperferritinemia in disease states and in autoimmune diseases.
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PMID:Ferritin in autoimmune diseases. 1764 33

Investigating persistent hyperferritinaemia without apparent iron overload is challenging. Even when inflammation, cirrhosis, Still's disease, fatty liver and malignancy are excluded, there remains a group of patients with unexplained hyperferritinaemia for whom rare forms of haemochromatosis (ferroportin disease) are a consideration. Preliminary results suggest that abnormal percentage glycosylation of serum ferritin is seen in some cases of genetically determined hyperferritinaemia. Serum ferritin is normally 50-81% glycosylated, but low glycosylation (20-42%) prevails in hereditary hyperferritinaemia cataract syndrome. This contrasts with hyperglycosylation (>90%) associated with the benign hyperferritinaemia related to missense L ferritin (p.Thr30Ile) mutation. Here, we describe two novel missense L ferritin variants also associated with hyperglycosylation, p.Gln26Ile and p.Ala27Val. Ferritin glycosylation, a comparatively simple measurement, can identify patients for DNA sequencing as hyperglycosylation (>90%) is associated with benign hyperferritinaemia and mutant L ferritin chain.
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PMID:Two novel mutations in the L ferritin coding sequence associated with benign hyperferritinaemia unmasked by glycosylated ferritin assay. 2255 Mar 25