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Molecular-Genetic Screening of Major Mutations in the ARSA Gene in Patients with Metachromatic Leukodystrophy

Gorovenko N.G., Olkhovich N.V., Pichkur N.A.

 




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.

Tsitologiya i Genetika 2002, vol. 36, no. 5, pp. 43-48



Gorovenko N.G., Olkhovich N.V., Pichkur N.A. Molecular-Genetic Screening of Major Mutations in the ARSA Gene in Patients with Metachromatic Leukodystrophy, Tsitol Genet., 2002, vol. 36, no. 5, pp. 43-48.




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