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Abnormal β‐D‐glucosidase and Different Growth Characteristics of Cultured Skin Fibroblasts from Infantile Gaucher's Disease
Author(s) -
Takeda Eiji,
Kuroda Yasuhiro,
Watanabe Toshiyuki,
Miyao Masuhide,
Kido Hiroshi,
Katunuma Nobuhiko
Publication year - 1981
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1981.tb00407.x
Subject(s) - isoelectric point , medicine , fibroblast , enzyme , isoelectric focusing , population , glucocerebrosidase , acid phosphatase , endocrinology , microbiology and biotechnology , biochemistry , disease , biology , in vitro , environmental health
Enzyme kinetics and the isoelectric point of S‐D‐glucosidase (EC 3.2.1.21) and growth characteristics of cultured skin fibroblasts from infantile type Gaucher's disease were examined. Growth characteristics of fibroblasts from the patient were different from those of normals; the population doubling times of the patient and the normal fibroblasts were 9.4 and 18.4 hours in the logarithmic phase, and the mean values of cell density in the stationary phase were 6.68 times 10! and 1.67 times 10! cells per square centimeter, respectively. S‐D‐glucosidase activity of patient's fibroblasts decreased to 22% of normal. No differences in the activities of several hydrolases such as S‐D‐galactosidase (EC 3.2.1.23) S‐L‐fucosidase (EC 3.3.1.51) and acid phosphatase (EC 3.1.3.2) in fibroblasts were observed between the patient and the normal. The apparent Km and pH profile of the enzyme in a crude preparation from the patient fibroblasts were the same as those from the normal one. The isoelectric focusing profile of S‐D‐glucosidase in cultured skin fibroblasts from infantile Gaucher's disease was different from that of the enzyme in fibroblasts from normal individuals; the predominant isoelectric point from the patient was at pH 5.5 and that from the normal at pH 4.5. These results indicate that the β‐D‐glucosidase of fibroblasts from infantile Gaucher's disease is a mutant enzyme. (Acta Paediatr Jpn 23(2): 208–213 1981)