engleski

Arylsulfatase A pseudodeficiency in dementia of the Alzheimer type and Down's syndrome

Deficiency of lysosomal enzyme arylsulfatase A (ASA) causes metachromatic leukodystrophy, rare autosomal recessive disorder. Low ASA activities have been also reported in healthy individuals and several neurologic and pshychiatric disorders, due to condition termed ASA pseudodeficiency. The aim of this preliminary study was to establish the frequency of two previously described mutations associated with ASA pseudodeficiency in individuals with diagnosis of dementia of the Alzheimer type (N=18), Down's syndrome (N=21) and healthy individuals (N=20) in Croatian population. For this purpose, genomic DNA was extracted from leukocytes and two fragments of ASA gene were amplified using specific primers. After digestion with adequate restriction enzymes, the reaction products were analyzed by electrophoresis on 8 % polyacrylamide gel. The results are expressed as frequencies of mutations responsible for ASA pseudodeficiency in analyzed groups. Also, APOE genotyping and measurement of ASA activities in leukocytes were performed.

nije evidentirano

nije evidentirano