Hutchinson-Gilford+Progeria+Syndrome

The cause of this disease is a point mutation on the LMNA gene.
 * Root cause of disease: **

This disease affects the whole body. Areas are affected differently. //Overall//- The growth of the individual is stunted and they will have a head that seems large especially in comparison to the face. Additionally the affected individual will be lacking in body fat throughout the body. //External systems//- The skin of a person with progeria is often dry and spotty and the individual will likely be lacking in normal hair. They may have complete body hair loss or just very short hairs. The teeth will grow like unaffected individuals would, however at a much slower rate. //Internal systems//- The skeleton of affected individuals will have many problems. The main problem is low bone density and potential for the body to start reabsorbing bone especially at the toes and fingers. A major cause of death is due to the problems in the cardiovascular system where atherosclerosis occurs. Individuals with this syndrome will never undergo puberty and they are very likely to be unable to recognize insulin.
 * Affected systems: **



The disease was discovered by two different individuals independently, giving the name Hutchinson-Gilford to the disease. Jonathan Hutchinson discovered the disease in 1897 while Gilford later described it in 1897. It is rare and has no famous individuals who had the disorder. However, recently attention was brought to the disease through the somewhat viral spread of the Facebook page of the young girl Adalia Rose who suffers from progeria.
 * Historical background: **

The symptoms of this syndrome tend to show one year to two years after birth. The symptoms are the small face, loss or lack of hair across the body, and the lack of growth.
 * Common Symptoms: **

**Standard Treatments:** There is no cures for this disease although research is being and has been done on multiple drugs. Currently the treatment used is a regimen of basic things to help limit the effects of the disease. An aspirin regimen is used to help lower risk of heart attacks and strokes which are common problems for those suffering from progeria. Regular physical therapy and playtime activity is recommended to strengthen the muscles. Finally shoe pads are recommended as the lack of fat in the body can make walking uncomfortable.

**Current Research:** <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Current research is geared towards finding treatment methods for the syndrome and is seen in many forms. In //Farnesyltransferase inhibitor treatment restores// //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">chromosome territory positions and active chromosome dynamics in Hutchinson-Gilford // //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">progeria syndrome cells //<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">the authors discover that by using a FTI/GGTI treatment they “were able to restore normal interphase chromosome positioning. More importantly, this treatment restored the rapid relocalization of chromosomes following serum withdrawal” (Mehta et al. 2011). This treatment finds that it can compensate for the faulty gene with a treatment that prevents the prelamin A from getting stuck to the walls of cells. Of course this still requires a lot of research to be applied in any way, but it is a strong step towards a treatment. Another treatment research paper was done by Cenni et al. entitled //Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria//. This project used rapamycin treatment to get an autophagy response from progeria cells. This reduces the accumulation of prelamin A in the cells and thus preventing the formation of progerin (Cenni et al. 2011). This does not totally stop the disease problems, but it is again a step in the right direction by removing a protein disfiguring the nuclear membrane.


 * <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">References **

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Cenni, V., Capanni, C., Columbaro, M., Ortolani, M., D'Apice, M. R., Novelli, G., Fini, M.,

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Marmiroli, S., Maraldi, N.M., Squarzoni, S., Prencipe, S., Lattanzi, G. (2011). Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria. //European journal of histochemistry: EJH//, //55//(4).

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford Progeria Syndrome. (2003 Dec 12)

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">[Updated 2011 Jan 6]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1121/

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">Mehta, I. S., Eskiw, C. H., Arican, H. D., Kill, I. R., & Bridger, J. M. (2011). Farnesyltransferase

<span style="font-family: 'Times New Roman',serif; font-size: 12pt;">inhibitor treatment restores chromosome territory positions and active chromosome dynamics in Hutchinson-Gilford progeria syndrome cells. //Genome Biol//, //12//, R74.