‘Benjamin Button’ disease: meet rare syndrome of youtuber who died – 01/14/2022

YouTuber Adalia Rose Williams, 15, who had Down syndrome Hutchinson-Gilford (HGPS), died on Wednesday (12). She became famous for sharing her daily life with the rare, genetic condition that causes premature aging.

Popularly known as “Benjamin Button” disease, in allusion to the movie starring Brad Pitt, the disorder causes a change in a cell protein and compromises all human development.

“The syndrome, specifically, is caused by a mutation of lamin A/C, a structural protein in the cell nucleus. This is so central to how the cell evolves, it messes up a lot of different processes,” explains David Schlesinger, geneticist, neurologist and director of executive at Mendelics, a laboratory specializing in genomic analysis.

According to the specialist, the disease can already be observed at birth, with clear signs of aging in the baby. In milder cases, the diagnosis occurs later, but still in the first months of life.

In general, the syndrome causes defects in cell replication, maintenance and senescence — the body’s metabolic process linked to aging — in a kind of “cascade effect”.

“With destructuring, several processes work in an ineffective or erroneous way. In this way, cells that were much more resistant to replication and to time are less resistant. This is very evident in organs and tissues with a high replication rate”, says Schlesinger . This is the case, for example, of skin and blood cells. So there is the impact on physical appearance.

Death can be caused by failure due to aging, especially cardiovascular events – such as heart attack and stroke.

“The disease prevents the production of antioxidant mechanisms to control aging. Therefore, the person acquires characteristics such as hair loss, thin skin, changes in the shape of the nails, fat loss, spontaneous fractures, microcalcifications and other signs”, comments Marcello Bossois, a researcher in the department of gene therapy at Laval University in Canada. According to him, there is no impact on the cognitive part.

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She's our PC girl, so anything is up to her. She is also responsible for the videos of Play Crazy Game, as well as giving a leg in the news.

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