Analysis of Gaucher Disease Responsible Genes in ColorectalAdenocarcinoma

[摘要] Gaucher disease is a hereditary genetic abnormality which defects the pathway of sphingolipid catabolism. The mutation of GBA gene which encodes lysosomal β-glucosidase enzyme is the main characteristics of the disease also is observed in different cancer types. To find the relation between the disease and colon adenocarcinoma, the responsible gene expression of Gaucher disease was analyzed. The gene expression of colon adenocarcinoma was was compared between death and alive patients and analyzed statistically to profile the differences between Gaucher disease genes expression changes. GBA, GBA2, GBA3, SCARB2 and PSAP have the maximum genetic alteration which is observed in colon adenocarcinoma.

[关键词] Gaucher disease;Colon adenocarcinoma;Glucosphingolipid;Genetic mutations;Macrophages;Immune dysregulation