Proteoglycan biosynthesis by human corneas from patients with types 1 and 2 macular corneal dystrophy.
نویسندگان
چکیده
منابع مشابه
Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family
Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implica...
متن کاملDefective processing of keratan sulfate in macular corneal dystrophy.
Macular corneal dystrophy is a human genetic disorder characterized by corneal opacities that arise, in part, from a failure to synthesize mature keratan sulfate proteoglycans. The macromolecules in macular corneas and in keratoconus corneas, an abnormality not involving proteoglycans, were biosynthetically labeled with [3H]mannose and [14C]glucosamine in organ culture, and the keratan sulfate ...
متن کاملMacular corneal dystrophy: failure to synthesize a mature keratan sulfate proteoglycan.
Corneal specimens obtained during surgery from patients with macular corneal dystrophy and obtained at autopsy from control eyes were incubated in a medium containing radioactive precursors of glycoproteins and proteoglycans. Biosynthetically radiolabeled material was extracted and characterized by using molecular sieve chromatography and specific enzymes. Cells in control corneas synthesized b...
متن کاملMitomycin C induces apoptosis in cultured corneal fibroblasts derived from type II granular corneal dystrophy corneas
PURPOSE The present study investigated the effect of mitomycin C (MMC) on cell viability, apoptosis, and transforming growth factor beta-induced protein (TGFBIp) expression in cultured normal corneal fibroblasts and heterozygote or homozygote granular corneal dystrophy type II (GCD II) corneal fibroblasts. METHODS Keratocytes were obtained from normal cornea or from heterozygote or homozygote...
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Dear Editor, The phenotypic appearance of granular corneal dystrophy (GCD) type 1 and GCD type 2 (also known as Avellino corneal dystrophy) changes with age, but is believed to also be influenced by trauma or intervening surgical procedures [1-3]. This report presents two cases of GCD, with varied manifestations before and after surgical intervention. Incidentally, Lee et al. [4] noted high pre...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 1990
ISSN: 0021-9258
DOI: 10.1016/s0021-9258(18)55489-2