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