Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy

  • Kondo R
  • Wakamatsu N
  • Yoshino H
 et al. 
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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.

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  • ISSN: 0002-9297
  • SCOPUS: 2-s2.0-0025891857
  • PUI: 21170734
  • PMID: 1673291
  • SGR: 0025891857

Authors

  • R. Kondo

  • N. Wakamatsu

  • H. Yoshino

  • N. Fukuhara

  • T. Miyatake

  • S. Tsuji

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