Progeria

By: Michael Hals

Cause
Point Mutation in LMNA gene. Replaces Cytosine with Thymine. The mRNA strand is cut short.

When translated, makes abnormal protein called progerin.

Affixes to nuclear rim. This weakens it's ability to divide.

Inheritance Pattern
Genetic disorder.

Not inherited from family.

Occurs in approximately 1 in 8,000,000 individuals.

Symptoms
Accelerated aging: wrinkled skin, hair loss, loss of eye sight, kidney failure, ect. Large heads compared to faces.

Genetic Testing
There are tests that locate Progeria.

Tests are done by The Progeria Research Foundation.

Tests see if there is a point mutation in LMNA. Tests lead to early diagnosis and better care.

Quality of Life
Those with Progeria live to their teens, but a few can live to their 20's. Can sustain injuries due to fragile bodies. Retain normal mental and motor development. Basically have to live like an old person would their whole life.

Research for Treatments

No known treatment at this time.

Studies in Farnesyltransferase inhibitors (FTI) show they move progerin away from nuclear envelope.
Tests on mice proved successful. Suggests that FTI could be used on humans.

References
Photos: More, K. (2007). 2011gtms8f - Progeria Jenna F.
2011gtms8f - Progeria Jenna F. Retrieved March 25, 2013, from https://2011gtms8f.wikispaces.com/Progeria Jenna F
Park, M. (2011, July 01). Clue to kids' early aging disease found. CNN. Retrieved March 21, 2013, from http://www.cnn.com/2011/HEALTH/07/01/progeria.treatment.aging.colli ns/index.html Wang, L. (2012, January 27). A proteomic study of HutchinsonGilford progeria syndrome: Application of 2D-chromotography in a premature aging disease. ScienceDirect.com. Retrieved from http://www.sciencedirect.com/science/article/pii/S0006291X11022650 MATHAWAADA: Progeria: A Disease You've Probably Never Heard

Resources (cont.)
Other Sources: Englert, C. H. (2011, April 8). Health Guide.
Progeria. Retrieved March 26, 2013, from http://health.nytimes.com/health/guides/disease/progeria/overview.html Goldman, R. D. (2004, April 26). Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson Gilford progeria syndrome. Accumulation of Mutant Lamin A Causes Progressive Changes in Nuclear Architecture in HutchinsonGilford Progeria Syndrome. Retrieved March 26, 2013, from http://www.pnas.org/content/101/24/8963.short

Yang, S. H. (2006, May 23). A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation. JCI -. Retrieved March 25, 2013, from http://www.jci.org/articles/view/28968