Linked Life Data

8101083

Source:http://linkedlifedata.com/resource/pubmed/id/8101083

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1993-8-17
pubmed:abstractText
To understand the molecular basis of metachromatic leukodystrophy (MLD) in Japanese patients, we analyzed the presence of three known mutant arylsulfatase A (ASA) alleles in 9 Japanese patients with MLD. Two of these mutant alleles (designated 609A and 2381T) were reported to be relatively frequent in a sample of predominantly Caucasian MLD. The other allele, with a substitution of Gly-99 by Asp (allele 445A), had been identified in a Japanese adult form of MLD in a heterozygous combination. We have found that allele 445A has a moderately high incidence among Japanese patients with MLD, and that homozygosity results in the late-infantile form. Neither allele 609A nor 2381T was found in Japanese patients examined in this study. Analysis on the nucleotide sequence of the ASA genes from another late-infantile MLD patient revealed the presence of a previously unreported G-to-A mutation at the 1,070th nucleotide of the ASA gene (designated 1070A). This results in a substitution of Gly-245 by Arg. This 1070A mutation was also found heterozygously in a juvenile MLD patient. When the 1070A mutation was introduced into the ASA cDNA and evaluated by transient expression studies, no enzyme activity was induced. These results suggest that Japanese MLD patients have a different distribution of ASA mutations from that found in a predominantly Caucasian population.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1044-5498
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
493-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.
pubmed:affiliation
Department of Pediatrics, Jikei University School of Medicine, Tokyo.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't