Открыт новый генетический синдром
Хроническое воспаление, тромбы, поражает мужчин (гены расположены на X хромосоме), аутоиммунный, строение некоторых клеток нарушено, синдром проявляется не с рождения, а начинается в течение жизни.
https://news.yahoo.com/scientists-discovered-life-threatening-disease-170700560.html - журналисты публике
https://www.nih.gov/news-events/news-releases/scientists-use-clues-human-genome-discover-new-inflammatory-syndrome - заявление амеровского NIH
https://www.nejm.org/doi/full/10.1056/NEJMoa2026834 - научная работа
Суть цитирую:
"the scientists eventually identified three middle-aged men who all had the same mutations in a gene called UBA1. They later discovered 22 other men with the same mutations and similar symptoms, like blood clots and fevers.
The research team named the disease VEXAS after its key characteristics: vacuoles (unusual cavity-like structures in certain cells), E1 enzyme (which is related to UBA1), X-linked (per the chromosome it's connected to), autoinflammatory (meaning the immune system accidentally attacks the body) and somatic (since the condition seems ot pop up sometime during the patient's life, rather than at birth)...
...
...Since the paper was published, 25 more patients with the syndrome have been found, but the study authors expect the true prevalence to be much higher,"
https://news.yahoo.com/scientists-discovered-life-threatening-disease-170700560.html - журналисты публике
https://www.nih.gov/news-events/news-releases/scientists-use-clues-human-genome-discover-new-inflammatory-syndrome - заявление амеровского NIH
https://www.nejm.org/doi/full/10.1056/NEJMoa2026834 - научная работа
Суть цитирую:
"the scientists eventually identified three middle-aged men who all had the same mutations in a gene called UBA1. They later discovered 22 other men with the same mutations and similar symptoms, like blood clots and fevers.
The research team named the disease VEXAS after its key characteristics: vacuoles (unusual cavity-like structures in certain cells), E1 enzyme (which is related to UBA1), X-linked (per the chromosome it's connected to), autoinflammatory (meaning the immune system accidentally attacks the body) and somatic (since the condition seems ot pop up sometime during the patient's life, rather than at birth)...
...
...Since the paper was published, 25 more patients with the syndrome have been found, but the study authors expect the true prevalence to be much higher,"