Uyali va molekulyar gastroenterologiya va gepatologiya jurnalida chop etilgan yaqinda o'tkazilgan tadqiqot shuni ko'rsatdiki, ATRX deb nomlangan gen mutatsiyasi ayollarda pankreatit va oshqozon osti bezi saratoni xavfini oshirishi mumkin. Ushbu tadqiqot me'da osti bezi saratoni uchun jinsga xos genetik xavf omillarining birinchi kashfiyotini belgilaydi.
The team used a preclinical model to examine the effect of ATRX mutations on the adult pancreas. They deleted the ATRX gene and then studied its effect on pankreatik saraton susceptibility. The team found that the deletion of the ATRX gene in women increased the susceptibility to pancreatitis-related pancreatic damage and accelerated the progression of pancreatic cancer. Erkaklarda ATRX mutatsiyasi oshqozon osti bezi shikastlanish xavfini oshirmaydi va aslida oshqozon osti bezi saratonining rivojlanishini sekinlashtiradi.
The team ‘s preclinical results were compared with human samples from the International Cancer Genome Alliance database, which includes whole-genome sequence analysis of 729 patients. Tadqiqot guruhi bemorlarning 19% ATRX genining mutatsiyasiga, shu jumladan kodlanmaydigan hududlarga ega ekanligini aniqladi, ularning 70% ayollardir. Ko'pgina mutatsiyalar ATRX oqsillari ketma-ketligini buzmasa ham, ATRX funktsiyasiga ta'sir qilishi taxmin qilingan mutatsiyalar deyarli faqat ayollarda uchraydi.
Louson olimi va dotsent doktor Kris Pinning aytishicha, “oshqozon osti bezi saratoni o'ta halokatli kasallik bo'lib, u tez-tez rivojlangan bosqichda aniqlanadi. Bemorlar odatda mavjud terapiyalarga javob bermaydilar va bemorlarning o'rtacha umrlari tashxis qo'yilgandan keyin 6 oydan kam. "Pankreatit - bu oshqozon osti bezi yallig'lanishi bilan tavsiflangan kasallik va oshqozon osti bezi saratonini rivojlanishining eng muhim omillaridan biri. Keyinchalik qo'shimcha tadqiqotlar o'tkazish kerak bo'lsa-da, pankreatit bilan kasallangan ayollar bir kun kelib xavfli guruh deb topilishi mumkin va bu gen mutatsiyasini tekshirish kerak.
In a follow-up study, Dr. Pin will work with French researchers to study patient shish samples in a new preclinical model. Their goal is to better understand the mechanism of ATRX mutations as a gender-specific risk factor. In order to develop better diagnosis and treatment methods for women carrying this mutation.
