Causes
~A mutation in the gene LMNA (Lamin A)
~Lamin A is found in the cell nucleus and helps maintain the function and shape of the cell
*Gene produces abnormal Lamin A protein called Progerin; a build up of progerin causes cellular instability and leads to premature aging
**Only 68 children in the world are reported to have Progeria; these children are scattered throughout the world in many different countries
*Effects both sexes and races
* Not common to be passed down in families
Aging Factor
~Genetically predisposed to premature heart disease
~Atherosclerosis involves deposits of fatty substances in the inner lining of an artery
-Other complications associated with atherosclerosis:
*High blood pressure
*Strokes
*Angina (chest pain)
*Enlarged heart
*Heart failure
Diagnostic Measures
~Progeria Research Foundation's Diagnostic Testing Program
*Initial clinical evaluation of child
*Blood sample from child to test for mutation in LMNA gene
Support
~Progeria Research Foundation
*Funds medical research aimed at developing treatments and eventually a cure for Progeria
*Has its own Cell & Tissue bank
*Scientists from PRF's Genetics Consortium were able to isolate the Progeria gene in October 2002
*Medical & Research Database for physicians & family
*Cardiac care
*Nutrition
*Other medical issues related to the disease
*Progeria Handbook
*Basic health facts
*Daily care recommendations
*Extensive treatment guidelines
*Clincial drug trials
It is very unfortunate news that the Leon Botha was one of the longest known survivors of Progeria has died 1 day before his 26th birthday.I feel very sorry for these patients that we can't do anything for their long survivals
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