I did a presentation for biology on the disease Progeria last week. I didn't know much about it and I found it really interesting learning about the disease. Only around 1 in 6 million new borns are affected so it is an unbelievably rare disease.
The cause of the disease is quite simple to understand. The LMNA gene is a gene responsible for producing the protein Lamin A.
Lamin A is basically the structural scaffolding which holds the nucleus of a cell together. In progeria the defective Lamin A protein makes the nucleus unstable and this cellular instability leads to the process of
premature ageing which is Progeria.
Children with Progeria will die of heart problems before the age of thirty as currently there is no cure. The Progeria Research Foundation is working towards developing a cure for these children and does some very worthwhile work for Progeria. It has carried out the first ever clinical trial for Progeria drugs and the results are due to come out later this year.
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