Recently, 15-year-old YouTuber Adalia Rose Williams has died. She recounted her fight against an extremely rare disease, called “progeria”, or Hutchinson Gilford syndrome. What is it about ?
What causes progeria?
There would only be between 100 and 200 cases of people with progeria in the world, according to Inserm. The disease is extremely rare and affects 1 in 4 to 8 million newborns. In France, only 3 cases are known. The disease has not been under control for a long time, it was not until 2003 that we were able to isolate the faulty gene involved in Hutchinson Gilford syndrome. The LMNA gene mutates (in 90% of children with progeria), without this being hereditary. This gene is involved in the production of proteins: lamins A and C.
“The mutation of the LMNA gene leads to the formation of an abnormal protein: progerin, from which the name of the disease originates. In this form, the proteins can no longer maintain the integrity of the structure. This leads to disorders preventing the normal functioning of cells, in particular their division and their communication. The repair and renewal of tissues would be impaired, resulting in pathological aging”, explains the Foundation for Medical Research.
What are the symptoms of progeria?
Medicine does not yet know how to detect progeria before (or even at the time of) birth. It is detected during the first year of the child’s life.
In the case of’Adalia Rose Williams, she was diagnosed at 3 months. The baby shows symptoms of very premature aging, hence its name from the Greek “geron” which means “old man”. It is not developing as it should : he has no hair, he has very thin and wrinkled skin, he does not gain fat, his nails and his teeth have trouble developing. In general, progeria impairs the growth of bones, muscles, the whole body. Cardiovascular disorders are added to joint pain.
What is the life expectancy for patients?
It is these cardiovascular disorders that most often lead to the death of people suffering from Hutchinson Gilford syndrome. The precise cause can be artherosclerosis (degeneration of the arteries), a stroke or even a myocardial infarction. The average life expectancy is very low, around 13 years. But death can occur between 6 and 20 years.
We do not know how to treat progeria, we are currently only able to support the complications it causes: statins for cardiovascular problems, physiotherapy for joint pain. Scientific research is advancing and exploring the pise of gene therapy to limit the production of progerin as much as possible.
Sources: Medical Research Foundation, Inserm
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