The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy

Deficiency of arylsulfatase A (ARSA) enzyme activity causes metachromatic leukodystrophy (MLD). A number of ARSA gene mutations responsible for MLD have been identified. Recently, the R496H mutation of ARSA was proposed to be a cause of MLD (Draghia et al., 1997). We have investigated the R496H muta...

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Bibliographic Details
Published in:Human mutation 1998, Vol.12 (4), p.238-239
Main Authors: Ricketts, Michael H., Poretz, Ronald D., Manowitz, Paul
Format: Article
Language:English
Subjects:
Adult
Black or African American
Black People - genetics
Cerebroside-Sulfatase - blood
Cerebroside-Sulfatase - genetics
Female
Genetic Testing
Genotype
Humans
Leukodystrophy, Metachromatic - enzymology
Male
Mutation
Polymorphism, Genetic
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Summary:Deficiency of arylsulfatase A (ARSA) enzyme activity causes metachromatic leukodystrophy (MLD). A number of ARSA gene mutations responsible for MLD have been identified. Recently, the R496H mutation of ARSA was proposed to be a cause of MLD (Draghia et al., 1997). We have investigated the R496H mutation and found this mutation at a relatively high frequency in an African American population (f = 0.09, n = 61 subjects). The ARSA enzyme activity in subjects with and without the R496H mutation was determined and found to be normal. It is therefore concluded that the R496H mutation of ARSA does not negatively influence the activity of ARSA and is not a cause of MLD. Hum Mutat 12:238–239, 1998. © 1998 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/(SICI)1098-1004(1998)12:4<238::AID-HUMU3>3.0.CO;2-B