Characterization of lysosomes and lysosomal enzymes from Chediak-Higashi-syndrome cultured fibroblasts
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چکیده
منابع مشابه
Chediak-Higashi-syndrome cultured fibroblasts
Chediak-Higashi-syndrome cultured skin fibroblasts were used to study the possible involvement of lysosomal enzymes and lysosomal dysfunction in this disorder. Our evidence indicated that Chediak-Higashi fibroblasts displayed a significant decrease in the specific activity of the acidic a-D-mannosidase (pH 4.2) compared with normal controls. Additional studies revealed a small, but significant,...
متن کاملThe cytoskeleton in Chediak-Higashi syndrome fibroblasts.
The Chediak-Higashi syndrome (CHS) trait is expressed in cultured human skin fibroblasts as an abnormal perinuclear concentration of moderately enlarged lysosomes. The cytoskeleton of CHS fibroblasts appears intact. Microtubules are normal in number and morphology, as assessed by colchicine binding studies, antitubulin immunofluorescence, and electron microscopy. Deformability by shear force is...
متن کاملDistribution pattern of lysosomal granules in fibroblasts of the Chediak-Higashi syndrome.
Cultured fibroblasts from a patient with the Chediak-Higashi syndrome, the mother of the patient, and a normal control were studied by light and electron microscopy. The distribution pattern of PAS-positive and acid phosphatase-containing granules in the cytoplasm differed significantly in the fibroblasts from the patient when compared with those from the mother and control. The granules in the...
متن کاملChediak-Higashi Syndrome
Impaired vision Photophobia Albinism of the OCA2 type, giving a lighter complexion than unaffected family members [6] Silvery sheen to hair which may be fair in colour Frequent infections (skin, mucous membranes, respiratory) Epilepsy Mental retardation Enlarged liver and spleen Jaundice Ataxia causing incoordination and a typical ataxic gait Tremor Epilepsy Peripheral neuropathy causing motor ...
متن کاملThe Chediak-Higashi syndrome: a possible lysosomal disease.
AR(;E ANOMALOUS GRANULATIONS in circulating leukocytes and cells of other tissues are a characteristic feature of Chediak-Higashi ( C.FI.) svndrcme)4 In addition to unusual intracellular particles, atie1 ts with this disease manifest partial albinism, photophobia, neurologic deficits, hepatosplenornegalv, lvmphadenopathy, increased susceptibility to viral and bacterial infections, and early dea...
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ژورنال
عنوان ژورنال: Biochemical Journal
سال: 1986
ISSN: 0264-6021,1470-8728
DOI: 10.1042/bj2380589