An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A.
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Honke K, Kobayashi T, Fujii T, Gasa S, Xu M, Takamaru Y, Kondo R, Tsuji S, Makita A
An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A.
Hum Genet. 1993 Nov;92(5):451-6.
- PubMed ID
- 7902317 [ View in PubMed]
- Abstract
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease with autosomal recessive inheritance caused by a deficiency of the enzyme arylsulfatase A (ASA). We have identified a new mutation in the ASA gene of a patient with adult-type MLD. In this mutation, the glycine at position 122, a highly conserved residue in the AS gene family, was replaced by serine. In a transient expression study, COS cells transfected with the mutant cDNA carrying 122Gly-->Ser did not show an increase of ASA activity and produced little material immunoreactive to an anti-ASA antibody, despite normal mRNA levels.