Cystic fibrosis is a disorder caused by a defective gene CFTR, also known as cystic fibrosis transmembrane conductance regulator. CFTR encodes for a protein channel localized on the outer membranes of epithelial cells within various parts of the body, including: the lungs, digestive tract, and exocrine (secretion) glands.
Duchenne muscular dystrophy involves the progressive deterioration of muscles, due to genetic mutations in the DMD gene leading to a deficiency of its encoded protein dystrophin. The dystrophin protein plays a vital role in strengthening muscle tissue, by crosslinking muscle fibers together.
In Gaucher disease there is accumulation of fatty substances known as sphingolipids, more specifically the type known as glucocerebrosides. The accumulation of glucocerebrosides is due to mutations in the gene GBA, leading to a deficiency in β-glucocerebrosidase enzyme. This enzyme normally hydrolyzes glucocerebrosides into its basic constituents, glucose and cerebroside.
Niemann Pick disease type C is one of the four main Niemann Pick disease types. It involves the accumulation of fatty substances within cells and organs. The main mutational defects are within the NPC1 and/or NPC2 genes, with both being involved in intracellular cholesterol trafficking. NPC1 itself is a cellular membrane protein, whereas NPC2 is a cytoplasmic protein. Alterations in these genes disrupt the trafficking mechanisms leading to cholesterol build-up.
Individuals with Osteogenesis imperfecta (OI) have deficient capabilities in the production of collagen type 1 protein. Collagen is one of the most abundant proteins found within humans, and is utilized within various connective tissue for structural organization. Multiple types of genes are known to be affected, but most cases involve the COL1A1 and COL1A2 genes associated with collagen fiber production.
Drug repositioning, also known as drug re-profiling or drug repurposing, is the different type of drug development process which involves identifying and developing new applications for existing drugs. These drugs themselves could either be on the market, or those that have been discontinued due to failure in the later stages of clinical trials.