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 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.
Institut für Biochemie II, Georg August Universität, Göttingen, Germany.
S
S
Kafert
U
U
Heinisch
J
J
Zlotogora
V
V
Gieselmann
D001483:Base Sequence; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation
D002553:Cerebroside-Sulfatase