Leukocyte adhesion deficiency (LAD) I is a disorder caused due to mutations in a gene (ITGB2) located on chromosome 21 and encodes the β2 subunit of the leukocyte integrin molecules. This leads to defects in the ...Leukocyte adhesion deficiency (LAD) I is a disorder caused due to mutations in a gene (ITGB2) located on chromosome 21 and encodes the β2 subunit of the leukocyte integrin molecules. This leads to defects in the adhesion of leukocytes on endothelial cells which further leads to recurrent microbial infections due to a decrease in the immune response. Base Excision Repair Mechanism (BER) is instrumental in repairing damaged DNA by removing mutated/ damaged bases. We have proposed a hypothesis for the treatment of LAD I by making use of the proteins/enzyme complexes responsible for base excision repair mechanism be introduced into the leukocytes via liposomes. This will target the mutated gene in the leukocytes (mostly neutrophils) and DNA repair will occur. The liposomes can be introduced into the patients via intravenous methods.展开更多
文摘Leukocyte adhesion deficiency (LAD) I is a disorder caused due to mutations in a gene (ITGB2) located on chromosome 21 and encodes the β2 subunit of the leukocyte integrin molecules. This leads to defects in the adhesion of leukocytes on endothelial cells which further leads to recurrent microbial infections due to a decrease in the immune response. Base Excision Repair Mechanism (BER) is instrumental in repairing damaged DNA by removing mutated/ damaged bases. We have proposed a hypothesis for the treatment of LAD I by making use of the proteins/enzyme complexes responsible for base excision repair mechanism be introduced into the leukocytes via liposomes. This will target the mutated gene in the leukocytes (mostly neutrophils) and DNA repair will occur. The liposomes can be introduced into the patients via intravenous methods.