Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications.
Hum Genet
; 82(1): 45-8, 1989 Apr.
Article
em En
| MEDLINE
| ID: mdl-2565866
ABSTRACT
At the locus for arylsulfatase A (ASA) at least four to five alleles exist besides the normal ASA+ and at least two to three deficiency alleles (ASA-), a pseudodeficiency allele, ASAp, is known. On SDS-PAGE the ASAp enzyme migrates slightly faster than ASA+. Treatment of extracts from cells with ASA+/ASA+, ASAp/ASAp, or ASA+/ASAp genotypes with endoglycosidase F leads to the same deglycosylated subunit pattern. Presumably the degree of glycosylation is lower in ASAp than in ASA+. In a large-scale screening project we determined a gene frequency of 7.3% for ASAp. Thus, the ASA locus is polymorphic. In seven families, ASAp showed a codominant mode of inheritance with ASA+. Homozygosity for ASAp has no obvious clinical consequences. In subjects with the compound genotype ASA-/ASAp, the residual enzyme activity may fall below a critical threshold, so that the substrate can no longer be hydrolyzed sufficiently. Since these compounds are not so rare (estimated frequency 0.073%), this mechanism could be of importance in neuropsychiatric disorders with late onset.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cerebrosídeo Sulfatase
Limite:
Humans
Idioma:
En
Ano de publicação:
1989
Tipo de documento:
Article