An 18-year-old girl died with the body of a 144-year-old woman. It sounds a little strange, doesn’t it? Yes, but it is true. The Benjamin button disease (Progeria) is the common name for this condition. Let’s take a look at her rare condition and see what we can learn about it.
Ashanti Smith, an 18-year-old woman from West Sussex, UK, had one of the rarest diseases in the world. The name of this is “The Benjamin Button disease”. People with this disease have an aging appearance. This is what we call the Hutchinson-Gilford Progeria Syndrome in medicine.
The disease was present when Smith was born. His physical development will be higher than his age. He had physical development for 8 years every year. No matter how hard the doctors tried, they could not fix it. Doctors have said that he will not live long.
As Smith’s mother Louis puts it: “Smith is a woman who is accustomed to being in the heart of others when she’s alive. She knows about her illness and she knows she will not live long. But she has lived happily ever after. We did everything she wished for when she was alive.”
Smith died at the age of 18. He was 144 years old at the time. Her faction has left many in tears. Many are mourning the death of Smith, who suffered from a rare illness. Leave your comments about this incident in the comments.
Pathology behind the Benjamin Button disease
The Benjamin Button disease is a very rare autosomal dominant disease that causes premature and accelerated aging (7 times the usual rate). It affects 1 out of every 4 million infants.
A point mutation (GGC to GGT) in the LMNA gene, which codes for lamin A, causes Benjamin Button disease.
This mutation activates a splice site inside exon 11 of the pre-mRNA, causing the final 150 base pairs (50 amino acids) of that exon to be deleted at the C-terminus.
This results in a truncated lamin A precursor (Progerin).
Normally, the ZMPSTE24 receptor recognizes lamin A and cleaves it, eliminating a few extra amino acids and forming a product that keeps the nuclei intact.
This cleavage is not feasible in the shortened lamin A precursor, and the prelamin A cannot mature. This is localized to the nuclear envelope, where it is not digested and accumulates, causing “lobulation of the nuclear membrane” and the nucleus shape and integrity to be lost.
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