Progeria+syndrome

Tom Bodnar

 The disease that I chose was Hutchinson-Gilford progeria syndrome. This is a rare genetic disease that has a mutation in the LMNA gene. The LMNA gene produces the Lamin A protein, which is component in the structural scaffolding that holds the nucleus of a cell together. The mutation is a deletion of about 50 amino acids that is responsible for the detachment of a farnesyl group. This farnesyl group transports the Lamin A protein to the nuclear envelope. Because the farnesyl group does not get removed it will remain stuck in the nuclear envelope to which it will get distorted. Once the envelope loses its shape the chromatin will be less likely to get anchored to the nuclear envelope for protein transcription. The distorted envelope will influence gene expression and shorten the life cycle of the mutated cells.

 Fact sheet (Chara P. Progeria. Magill’S Medical Guide (Online Edition) [serial online]. January 2013) || 2) Kalinowski A, Yaron P, Dahl K, et al. Interfacial binding and aggregation of lamin A tail domains associated with Hutchinson-Gilford progeria syndrome. Biophysical Chemistry [serial online]. 2014; ||
 * Disease Name || Hutchinson-Gilford progeria syndrome ||
 * Root cause of disease || Mutation in LMNA gene to cause a distortion in the nuclear envelope. ||
 * Affected cell types/tissues/organs/ systems || Prevalent in most muscular and bone cells. Most influenced in cells under high levels of stress. Cause frequent hip dislocations and cardiovascular disease. Death is typically caused by heart failure. ||
 * Historical background || Disease is very rare and infects 1 in 8 million people. It was discovered in 1886 by Jonathan Hutchinson. There are less than 100 known cases in history. ||
 * Common Symptoms || Slow growth rate, less than average weight, baldness, aged-looking skin, pinched nose, a small face and jaw, stiffness of joints, hip dislocations, progressive cardiovascular disease, muscular dystrophy, death occurs on average at age 13. ||
 * Standard Treatments || <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Lonafarnib. Oral medication, given twice daily. Lonarfanib binds to and inhibits farnesyl transferase from attaching to the lamina A protein. The rate of Progeria can only be slowed. No none cure. ||
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Current Research || <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Lonafarnib was discovered by researchers in 2012. The “Progeria research foundation.” Is the lead funder for its medical research. Due to the small number of infected patients clinical trials highly dictate research effectiveness. Research is currently looking into more treatment options.
 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">References || <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">1) (Chara P. Progeria. Magill’S Medical Guide (Online Edition) [serial online]. January 2013