title: [Molecular screening of the major mutations in the ARSA gene in patients with metachromatic leukodystrophy].
abstract: Metachromatic leukodystrophy (MLD) is an inherited storage disease caused by deficiency of arylsulfatase A (ARSA). Molecular analysis of the major mutations in the ARSA gene was performed in 10 Ukrainian patients (from 9 families) with MLD. According to the age of onset, late infantile MLD was identified in 3 patients, juvenile MLD in 5 patients, and adult MLD in 2 patients (sibs), respectively. The ARSA activity in the patients was 2-26 nmol/h/mg protein (the normal activity has been established in our laboratory as 111.9 +/- 7.1 nmol/h/mg protein). No correlation between enzyme activity and a clinical course of disease was revealed. The IVS2 + 1 mutation was found at 2 of 20 alleles (in a patient with late infantile form) and the P426L mutation was found at 2 of 20 alleles (in two patients with juvenile form). Thus, the total frequency of these two major mutations in the ARSA gene is 20% in Ukrainian MLD patients.
authors.forename: N H
authors.initials: NH
authors.lastname: Horovenko
authors.forename: N V
authors.initials: NV
authors.lastname: Ol'khovych
authors.forename: N O
authors.initials: NO
authors.lastname: Pichkur
mesh_terms: D000483:Alleles; D002553:Cerebroside-Sulfatase / Q000235:genetics* / Q000378:metabolism; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D017931:DNA Primers; D002553:Cerebroside-Sulfatase