1. Medical biology research center 2. Department of biochemistry
Abstract
Introduction
The gaucher disease is the most common type of lysosomal storage diseases that, particularly affects the macrophage cells. this disease is caused by the defect in glucocerebrosidase enzyme and it causes to the neurological complications, bone disorders, enlarged liver and spleen, anemia and etc. these disorders occurs due to accumulation of the enzyme substrate in the liver, spleen, bone marrow, and especially in macrophages. gaucher disease is divided into three clinical types based on the mutation types. the type 1 gaucher is the most common form of disease (without neurological disorders).
Methods
The proteome of fraction containing albumin was evaluated by two-dimensional gel electrophoresis after removing the other proteins. after scanning the gels and identification of protein pattern differences between patients and healthy people images were analyzed by imagemaster software. in the gels, 125 repeatable spots were identified. finally, to determine the variation between the percent volumes of spots, data were analyzed by spss software, then identified by searching in articles and the swiss-2d page database.
Results
We found 6 protein spots which have close relation with gaucher disease and have significant changes in gel of healthy and the gaucher patients. apolipoprotein a 1، e، a iv reduced expression, and the gamma chain of fibrinogen and protein bound to vitamin d were increased expression.
Conclusion
According to the results, these changes may play an important role in evaluating the response to treatment.
Keywords
Gaucher disease, two-dimensional gel electrophoresis, proteome, protein spot, albumin fraction
