Hutchinson Gilford Progeria Research Paper

Progeria is known as Hutchinson-Gilford Progeria Syndrome (HGPS). Progeria is a mutation that occurs within your genes. This disorder is extremely rare but fatal. In the gene Lamin A is the mutated protein gene. LMNA is responsible for giving instructions to make the protein Lamin A within the cell. This protein, Lamin A, is necessary for holding the center of a cell together, known as the nucleus (Progeria Research Foundation). The failure of LMNA results in making all the cells destabilized. The failure of LMNA can change the health and appearance of a new born baby and change their life. The factor in Progeria that causes aging is Progerin. Everyone’s body makes a little bit of progerin, the disease causing protein in Progeria (Progeria
Dr. R.C.M. Hennekam). First, the physical growth tends to fall behind. Physical growth will stop and weight increase will come to a halt. Growth problems are the first concern that comes to parent’s attention. This stage is where the bone structure starts to deform. Many times doctors give x-rays or a MRI, to look at their bone structure more in depth. The x-rays/MRI commonly show thinning and tapering of the ribs, Clavicular Resorption, long bones, Avascular Necrosis of the femoral head, etc. (Research Foundation). Though, some findings are not abnormal with the first radiology visit. Other processes of diagnosing Progeria will test hearing, vision, measure pulse, blood pressure, and will compare weight between the child being diagnosed and a child with normal growth
The skin tends to be thick and tight and wrinkles appear on the child’s skin. Also, their head and facial features tend to get bigger. This results in a bigger head, large eyes, a small lower jaw, thin nose with a “beaked” tip, ears stick out, vein are very visible, hair-loss including eyelashes and eyebrows, and abnormal tooth growth (Corporate Author). The body of a child with Progeria tends to end up looking like a child stuck in an 80 year olds body. The most dangerous part of a child living with Progeria are the extremities of the health effects. Children with Progeria have many cardiovascular health issues (Progeria Research). Some problems pertaining to cardiovascular are; blood vessels that supply the heart resulting in heart attack and congestive heart failure, blood vessels that supply the brain resulting in stroke (Mayo Clinic), heart murmurs, atherosclerosis, etc. These cardiovascular problems lead to shortness of breath and to a severe extent to death. In fact most children living with Progeria die from cardiovascular