An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A.
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.
Honke
K
K
Biochemistry Laboratory, Hokkaido University School of Medicine, Sapporo, Japan.
Kobayashi
T
T
Fujii
T
T
Gasa
S
S
Xu
M
M
Takamaru
Y
Y
Kondo
R
R
Tsuji
S
S
Makita
A
A
D000328:Adult; D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D002522:Chlorocebus aethiops; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005260:Female; D005998:Glycine / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000166:cytology; D007966:Leukodystrophy, Metachromatic / Q000235:genetics*; D008969:Molecular Sequence Data; D016297:Mutagenesis, Site-Directed; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D012694:Serine / Q000235:genetics; D014162:Transfection
D017931:DNA Primers; D012694:Serine; D002553:Cerebroside-Sulfatase; D005998:Glycine