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:: دوره 29، شماره 2 - ( تابستان 1398 ) ::
جلد 29 شماره 2 صفحات 116-101 برگشت به فهرست نسخه ها
ژنتیک مولکولی نوروفیبروماتوز 1 و چشم انداز
محمدرضا نوری دلویی 1، الهام بوستانی پور2
1- دپارتمان ژنتیک پزشکی، دانشکده پزشکی، دانشگاه علوم پزشکی ، nooridaloii@sina.tums.ac.ir
2- دانشجوی کارشناسی ارشد ژنتیک انسانی، دانشگاه علوم پزشکی تهران
چکیده:   (4053 مشاهده)
چکیده
نوروفیبروماتوز تیپ ۱ (NF1) یک نشانگان مستعد به تومور غالب اتوزومی است که با رخداد جهش و در نتیجه، از دست دادن کارکرد در یک ژن سرکوبگر تومور به نام نوروفیبرومین ۱ ایجاد می­شود. درمان اغلب محدود به برداشت تومور با یک حاشیه آشکار است. در این مقاله مروری پیرامون نقش سرکوبگری تومور چند کارکردی نوروفیبرومین بحث شده است. در حالی که نوروفیبرومین مهار کننده رشد و تکثیر از طریق مسدود کردن انتقال سیگنال به واسطه RAS  (RAS mediated)  است، اما باید به عنوان یک تعدیل کننده تحرک سلولی، چسبندگی سلولی از طریق ارتباط با اسکلت سلولی و ساختار غشاء نیز در نظر گرفته شود. نوروفیبرومین به عنوان تنظیم کننده منفی مسیرهای سیگنال دهی RHO/ROCK که در دینامیک و پویایی اسکلت سلولی دخیل هستند، عمل می­کند و ابزاری در جهت توسعه مناسب نورون­ها در سرطان به شمار می­آید. از دست رفتن کارکرد طبیعی نوروفیبرومین توسط رخداد جهش، موجب افزایش تکثیر سلولی، مهاجرت و مستعد شدن بیماران نوروفیبروماتوز تیپ یک به تومور می­شود. بدخیمی غلاف اعصاب محیطی تومورها (MPNSTs) قادر است از نوروفیبروماتوز خوش­خیم گسترش یابد. رخدادی که دلیل اصلی مرگ بین بیماران نوروفیبروماتوز تیپ 1 به نظر می­رسد. پژوهش­های اخیر در MPNSTs کوشیده است از رویدادهای مولکولی کلیدی که MPNSTs را به سمت بدخیمی هدایت می­کند، پرده بردارد. پیشرفت­های مربوط به بدخیمی که در مهاجرت سلولی و سیگنال­دهی رگ­زایی دخیل هستند احتمالا روی بار درمان­های آینده نوروفیبروماتوز تیپ 1 و سرطان های پراکنده مرتبط تاثیر گذار هستند.
واژگان کلیدی: نورفیبروماتوز تیپ یک، نوروفیبرومای شبکه­ای، MPNST.
واژه‌های کلیدی: نورفیبروماتوز تیپ یک، نوروفیبرومای شبکه‌ای، MPNST
متن کامل [PDF 1000 kb]   (3020 دریافت)    
نيمه آزمايشي : مروري | موضوع مقاله: ژنتيك
دریافت: 1397/9/5 | پذیرش: 1397/10/23 | انتشار: 1398/3/26
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Nooridaloii M R, Boustanipour E. The molecular genetics of neurofibromatosis type 1 and its future prospective . MEDICAL SCIENCES 2019; 29 (2) :101-116
URL: http://tmuj.iautmu.ac.ir/article-1-1574-fa.html

نوری دلویی محمدرضا، بوستانی پور الهام. ژنتیک مولکولی نوروفیبروماتوز 1 و چشم انداز . فصلنامه علوم پزشکی دانشگاه آزاد اسلامی تهران. 1398; 29 (2) :101-116

URL: http://tmuj.iautmu.ac.ir/article-1-1574-fa.html



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فصلنامه علوم پزشکی دانشگاه آزاد اسلامی واحد پزشکی تهران Medical Science Journal of Islamic Azad Univesity - Tehran Medical Branch
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