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Kinetics and activity of arylsulfatase A in leukocytes derived from patients with cerebral palsy

SVJETLANA KALANJ BOGNAR
BLAZENKA FORETIC
IVANA FURAC
ZELJKA VUKELIC
ZDRAVKO GRUBESIC


Puni tekst: engleski pdf 226 Kb

str. 95-104

preuzimanja: 978

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Sažetak

Activity and kinetics of arylsulfatase A (ASA, EC 3.1.6.8) were analyzed in leukocyte homogenates derived from patients suffering from cerebral palsy. Lower ASA activity was found in the patients' leukocytes than in controls, as determined by spectrophotometry using chromogenic substrate p-nitrocatechol sulfate (p-NCS). Kinetic parameters, Km and vmax, for leukocyte ASA were determined from the dependence of initial reaction velocities on the p-NCS concentrations. A slight difference in Km values was found for leukocyte enzyme in cerebral palsy (0.26 mmol L-1) compared to the control (0.21 mmol L-1), whereas max-1 value for leukocyte ASA in disease reached only 58% of the control value. In addition, the presence of the most common mutations associated with ASA pseudodeficiency (N350S, 1524+95 A>G) and metachromatic leukodystrophy (P426L) was detected in all investigated patients. Changes in activity and kinetic parameters of leukocyte ASA in cerebral palsy are most probably related to the decrease of enzyme concentration; the detected mutations might at least partially contribute to the observed changes.

Ključne riječi

arylsulfatase A; kinetic parameters; enzyme activity; mutations in ASA gene; cerebral palsy

Hrčak ID:

4571

URI

https://hrcak.srce.hr/4571

Datum izdavanja:

1.1.2006.

Podaci na drugim jezicima: hrvatski

Posjeta: 2.446 *