Abstract

Deficiency of AMP-deaminase is one of the most frequent enzymopaties. The disorder has autosomally recessive character and most offen is a result of C34T point mutation (Gln→Stop) in AMPD2 gene, coding muscle isozyme of AMP-deaminase. One of the metabolic consequences of this mutation is increased production of adenosine by affected skeletal muscles. The augmented level of adenosine in circulation causes relaxation of arterial vessels, improving the course and prognosis of patients with chronic heart insufficiency. The presented data indicate that in C34T mutation affected AMPD1 cardiac muscle, the activity of AMP-deaminase is significantly decreased and chromatography and kinetic properties of the enzyme significantly modified. This may intensify the local production of adenosine by the working cardiac muscle.