Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts.
The biochemical defect of cultuired skin fibroblasts from Hurler or Hunter patients (faulty degradation of sulfated mucopolysaccharide, resulting in excessive intracellular accumulation) may be corrected if cells of these two genotypes are mixed with each other or with normal cells. The effect is mediated by substances released into the medium.
D002239:Carbohydrate Metabolism, Inborn Errors; D046508:Culture Techniques; D005347:Fibroblasts / Q000378:metabolism*; D005838:Genotype; D006025:Glycosaminoglycans / Q000378:metabolism*; D006801:Humans; D008607:Intellectual Disability; D008967:Molecular Biology; D008059:Mucopolysaccharidosis I / Q000378:metabolism*; D016532:Mucopolysaccharidosis II / Q000378:metabolism*; D012174:Retinitis Pigmentosa / Q000378:metabolism*; D012730:Sex Chromosomes; D012867:Skin / Q000166:cytology; D013431:Sulfates / Q000378:metabolism; D013460:Sulfur Isotopes; D014357:Trypsin
D006025:Glycosaminoglycans; D013431:Sulfates; D013460:Sulfur Isotopes; D014357:Trypsin