PMID: 6108562Oct 1, 1980Paper

Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts

Proceedings of the National Academy of Sciences of the United States of America
P L Chang, R G Davidson

Abstract

Metachromatic leukodystrophy and multiple sulfatase deficiency disorder are severe neurodegenerative diseases inherited as separate autosomal recessive traits. Arylsulfatase A (aryl-sulfate sulfohydrolase, EC 3.1.6.1) activity is deficient in both diseases but in multiple sulfatase deficiency disorder, activities of arylsulfatases B and C and other sulfatases are also reported to be reduced. Somatic hybrid cell clones produced by fusing cultured fibroblasts from patients with these diseases were isolated by a nonselective technique based on unit-gravity sedimentation. Arylsulfatase A activity was restored in these hybrids. The complemented enzyme resembled the normal arylsulfatase A in heat stability, pH optimum, Km, electrophoretic mobility, and immunologic reactivity. Because a structurally normal enzyme can be restored in a hybrid only though intergenic complementation, these results indicate that the mutations responsible for the deficiency of arylsulfatase A activity in metachromatic leukodystrophy and multiple sulfatase deficiency disorder are nonallelic and that at least two genetic loci control the expression of arylsulfatase A activity in the human genome. Furthermore, arylsulfatase C activity was also restored to norm...Continue Reading

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Citations

Jan 1, 1984·Neurochemical Pathology·A A Farooqui, L A Horrocks
Dec 1, 1983·Proceedings of the National Academy of Sciences of the United States of America·P L Chang, R G Davidson
Apr 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·W Rommerskirch, K von Figura
Apr 1, 1982·European Journal of Biochemistry·A WaheedK von Figura
Aug 15, 1985·European Journal of Biochemistry·F SteckelK von Figura
Aug 30, 2005·Annual Review of Genomics and Human Genetics·Graciana Diez-Roux, Andrea Ballabio
Jul 17, 1984·Biochimica Et Biophysica Acta·G J Rao, M E Christe
Jan 16, 1985·Biochemical and Biophysical Research Communications·D Zucker-Franklin, Z F Nabi
Mar 1, 1982·Annals of Neurology·E H Kolodny, W J Cable
Apr 1, 1982·Clinical Genetics·H KiharaC H Fish
Oct 30, 2020·The Biochemical Journal·Torben Lübke, Markus Damme

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