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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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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.[1]

References

  1. A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme. Kafert, S., Heinisch, U., Zlotogora, J., Gieselmann, V. Hum. Genet. (1995) [Pubmed]
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