A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme

Metachromatic leukodystrophy is a lysosomal storage disease caused by deficiency of arylsulfatase A. Sequencing of the arylsulfatase A genes of an Ashkenazi Jewish patient suffering from the severe late infantile form of the disease revealed a point mutation in exon 2 causing proline 136 to be subst...

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Bibliographic Details
Published in:Human genetics 1995-02, Vol.95 (2), p.201-204
Main Authors: KAFERT, S, HEINISCH, U, ZLOTOGORA, J, GIESELMANN, V
Format: Article
Language:English
Subjects:
Askenazi Jews
Base Sequence
Biological and medical sciences
cerebroside-sulfatase
Cerebroside-Sulfatase - genetics
Child, Preschool
demyelination
Errors of metabolism
Female
Humans
leukodystrophy
Lipids (lysosomal enzyme disorders, storage diseases)
lysosomal enzymes
man
Medical sciences
Metabolic diseases
missense mutant
Molecular Sequence Data
Mutation
nucleotide sequence
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Description
Summary:Metachromatic leukodystrophy is a lysosomal storage disease caused by deficiency of arylsulfatase A. Sequencing of the arylsulfatase A genes of an Ashkenazi Jewish patient suffering from the severe late infantile form of the disease revealed a point mutation in exon 2 causing proline 136 to be substituted by leucine. The patient was homozygous for this mutation. Studies on Ltk- cells stably expressing the mutant enzyme show that the mutation causes complete loss of enzyme activity and rapid degradation in an early biosynthetic compartment.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00209402