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Arylsulfatase A in multiple sclerosis

The aim of this study was to elucidate possible involvement of a lysosomal enzyme arylsulfatase A (ASA) in complex pathogenesis and clinical features of multiple sclerosis (MS). Low ASA activities have been reported in healthy individuals due to condition termed ASA pseudodeficiency (ASA-PD). Mutations associated with ASA-PD may underlie the susceptibility for neurological disorders. Possible contribution of ASA-PD mutations to pathogenesis of multiple sclerosis is explained by death of oligodendrocyte subpopulations resulting with exposure of myelin antigens and immune reaction.2 For the purposes of this study, blood samples were collected from patients with diagnosis of multiple sclerosis (N=29, 15 females and 14 males ; age range: 22-68 years) and individuals in control group (N=15, 7 females, 8 males ; age range: 20-71 years). The diagnosis of MS was made according to McDonalds criteria3. The ASA activity was measured in leukocyte homogenates by spectrophotometric method using p-nitrocatechol sulfate as chromogenic substrate.4 The presence of previously described mutation associated with ASA-PD (1524+95 A-G mutation) was analyzed in patients and controls, using PCR-RFLP method (polymerase chain reaction– restriction fragment length polymorphism).2 Determination of ASA activity showed slightly lower values in MS patients (105± 44 nmol h-1 mg-1) in comparison with controls (120± 53 nmol h-1 mg-1). A decrease of ASA activity below normal values (60 nmol h-1 mg-1) was found in two patients. Although all other measured ASA activities were in the normal range (60 – 300 nmol h-1 mg-1), a distribution of obtained results showed a trend toward lower values in MS patients. Genotyping for ASA-PD 1524+95 A-G mutation showed that 6 MS patients and 1 control were heterozygous carriers for this mutation. In conclusion, presented preliminary data show that further study on a larger sample is necessary in order to estimate a possible association of MS clinical features with a presence of different mutations in the ASA gene and alterations of ASA activity.

arylsulfatasa A; multiple sclerosis

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