CPPS 403 Final Exam questions and answers 2024

Adenosine deaminase deficiency (ADA-SCID) -autosomal recessive metabolic disorder -immunodeficiency -increase in dATP inhibits ribonucleotide reductase and prevents DNA synthesis -patients receive BM transplant or ERT -Busulfan to condition patient prior to cell reintroduction Beta-thalassemia common blood disorder -mutation in the HBB gene that produces Beta Globin -BE/B0 most common -Be allele point mutation leading to alternative splicing creating B-globin with partial instability Beta Thalassemia Treatment lentiviral vector (now called zynteglo) -ex vivo autologous transplantation Sickle Cell Disease Autosomal recessive mutation in HBB -hemoglobin S will polymerize upon deoxygenation -stiffening and sickling of RBCs Sickle Cell Disease Treatment Autologous hematopoietic stem cell transplant -LentiGlobin BB305 vector (BAT87Q) variant prevents polymerization -cis-regulatory elements that confer high, erythroid specific expression Junctional epidermolysis bullosa chronic, painful and untreatable wounds leading to skin cancers, infection and sometimes death Leber congenital amaurosis (LCA) -common blindness in children -mutation in RPE65 -produces retinal pigment epithelial specific protein (RPE65) for vision -results in dysfunction and degeneration of retina Leber congenital amaurosis (LCA) Treatment AAV2-RPE65 vector injected sub-retinal -visual function improved in patients s -cone and rod sensitivities increased significantly -must have viable retinal cells Familial Lipoprotein Lipase Deficiency -autosomal recessive -enzyme exist on luminal surface of endothelial cells of capillaries in adipose, heart, and skeletal muscle tissue -LPL mutation: hypertriglycermidemia, jaundice, recurrent pancreatitis, enlarged liver Familial Lipoprotein Lipase Deficiency Treatment 40 intramuscular injection of AAV-1 LDL in 40% reduction reduced pancreatitis Hemophilia B: blood clotting disorder by a mutation F9 -X linked recessive A: mutation in F8 X linked recessive Hemophilia B Treatment Treated with self complementary adeno associated virus (AAV) vector expressing a human factor 9 transgene Spinal Muscular Atrophy Type I