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Recent advances in the study on leukodystrophy. Shoji TSUJI 1 , Rui KONDO 1 , Ryoko KOIKE 1 , Tadashi MIMATAKE 2 1Department of Neurology, Brain Research Institute, Niigata University 2Department of Neurology, Tokyo Medical and Dental University pp.106-115
Published Date 1992/2/10
DOI https://doi.org/10.11477/mf.1431900217
  • Abstract
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Application of molecular genetics has made it possible to understand the molecular mechanisms of neurologic diseases. Among various forms of leukodystrophies, detailed analyses of gene mutations responsible for metachromatic leukodystrophy have brought us better understanding of the molecular mechanisms of the disease. Although the disease genes for adrenoleukodystrophy (ALD) and globoid cell leukodystrophy have not been identified, the chromosomal loci have been already identified and the disease genes are now being pursuited employing a new technology called “positional cloning”.

To better understand the molecular mechanisms responsible for three clinical phenotypes (late infantile, juvenile, adult), we have undertaken detailed nucleotide sequence analyses of arylsulfatase A gene of a patient with adult type metachromatic leukodystrophy. Among all exons and splice junctions of the arylsulfatase A gene, we have identified a G to A transition in the exon 2 of the arylsulfatase A gene which results in amino acid substitution of Asp for Gly. Transient expression of a mutant cDNA carrying the Gly to Asp mutation confirmed that the mutation creates inactive arylsulfatase A. The patient was a compound heterozygote having the Gly to Asn mutation and another yet unidentified mutation derived from the mother.


Copyright © 1992, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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