Alternate Splicing Of Tryptase Genes Regulates Their Specificity
Funder
National Health and Medical Research Council
Funding Amount
$294,250.00
Summary
Tryptases are enzymes implicated in inflammatory disorders including arthritis, inflammatory bowel disease (IBD) and asthma. Specific tryptase inhibitors are effective in treating these diseases. We have discovered that each human tryptase gene is processed into two different protein products via a mechanism called alternate splicing. We will investigate the structure and function of these.
The aim of this proposal is to evaluate a novel therapy option for children with a genetic disorder called mucopolysaccharidosis (MPS). MPS arise from the build up of complex carbohydrates in cells within the body due to the deficiency of an enzyme required for their degradation. By decreasing the synthesis of carbohydrate we can manipulate the level of stored carbohydrate and alleviate the pathology associated with MPS. The novel therapy is based on a chemical modification of glucose that inhib ....The aim of this proposal is to evaluate a novel therapy option for children with a genetic disorder called mucopolysaccharidosis (MPS). MPS arise from the build up of complex carbohydrates in cells within the body due to the deficiency of an enzyme required for their degradation. By decreasing the synthesis of carbohydrate we can manipulate the level of stored carbohydrate and alleviate the pathology associated with MPS. The novel therapy is based on a chemical modification of glucose that inhibits carbohydrate synthesis and is termed substrate deprivation therapy.Read moreRead less