A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme.
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Kafert S, Heinisch U, Zlotogora J, Gieselmann V
A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme.
Hum Genet. 1995 Feb;95(2):201-4.
- PubMed ID
- 7860068 [ View in PubMed]
- Abstract
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.