title: Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.
abstract: To analyze the genetic abnormality in a Japanese patient with adult-type metachromatic leukodystrophy (MLD), we first elucidated the genomic organization of the human arylsulfatase A (ASA) gene and then compared the nucleotide sequences of exons and splice junctions of the mutant ASA gene to those of a normal control. We have identified a new mutation, a G-to-A transition in exon 2, which results in amino acid substitution of Asp for 99Gly. In a transient expression study, COS cells transfected with the mutant cDNA carrying 99Gly----Asp did not show an increase of ASA activity, which confirms that the mutation is a cause of adult-type MLD.
authors.affiliation: Department of Neurology, Niigata University, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Kondo
authors.forename: N
authors.initials: N
authors.lastname: Wakamatsu
authors.forename: H
authors.initials: H
authors.lastname: Yoshino
authors.forename: N
authors.initials: N
authors.lastname: Fukuhara
authors.forename: T
authors.initials: T
authors.lastname: Miyatake
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
mesh_terms: D000328:Adult; D001483:Base Sequence; D015153:Blotting, Western; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007438:Introns; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*
chemical_list: D002553:Cerebroside-Sulfatase