Naslov
Croatian population data for arylsulfatase A pseudodeficiency associated mutations in healthy individuals, dementia of the Alzheimer type and Down's syndrome

Autori
Kalanj-Bognar, Svjetlana ; Furač, Ivana ; Kubat, Milovan ; Ćosović, Čedomir ; Demarin, Vida

Izvornik
Archives of Medical Research (0188-4409) 33 (2002), 5; 473-477

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Arylsulfatase A; Pseudodeficiency mutations; Dementia of the Alzheimer type; Down's syndrome; Croatian population

Sažetak
Background: Arylsulfatase A (ASA) is a lysosomal enzyme involved in catabolism of cerebroside sulfate, whose deficiency causes metachromatic leukodystrophy, a rare autosomal recessive disorder characterized by the storage of cerebroside sulfate mainly in the nervous system. Low ASA activities have been also reported in healthy individuals and several neuropsychiatric disorders, due to condition termed ASA pseudodeficiency. The aim of this study was to establish the frequency of two mutations associated with ASA pseudodeficiency in healthy individuals in a Croatian population as well as in individuals with dementia of the Alzheimer type and Down's syndrome. Methods:The presence of the N350S and 1524+95 A-G pseudodeficiency mutations was detected in genomic DNA extracted from leukocytes of healthy subjects (n=125) and of patients with dementia of the Alzheimer type (n=18) and Down's syndrome (n=21). The activity of arylsulfatase A was measured in leukocyte homogenates by spectrophotometry (lambda=515 nm) using p-nitrocatechol sulfate as chromogenic substrate. Results: The frequency of the N350S mutation and the mutation 1524+95 A-G was estimated at 6.8% and 2.8% for healthy controls, 11% and 5.5% for the Alzheimer's dementia, 12% and 9.5% for Down's syndrome, respectively. The activity of arylsulfatase A was slightly but not significantly decreased in leukocytes derived from subjects with dementia and Down's syndrome in comparison with age-matched control samples. Conclusion: The frequency of two mutations associated with ASA pseudodeficieny in a Croatian population is slightly below the range reported for other populations. Also, despite the proposed role of arylsulfatase A pseudodeficiency as one of the predisposing factors for neuropsychiatric disorders, our preliminary results did not show significantly higher frequencies of both mutations in dementia of the Alzheimer type and Down's syndrome.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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