نهج الطب التكاملي في تثبيط مستقبلات 1C (PPP1R1C)، والمستقبلات المحتوية على RHOA 3 (SORC3). اضطراب طيف التوحد والإعاقة الذهنية (ID)، لإدارة الدليل الإحصائي للاضطرابات العقلية (DSM) بين الأطفال المصابين بالتوحد من الدرجة الأولى.
المؤلفون: أ.د.أثير أ، د.عبد العزيز أحمد الجزيري
المؤتمر: تحديات التوحد وحلولها – الثاني عشر 2024
الكلمات الدالة: دراسات الجينوم، العلاج غير الجراحي، التنظيم الجيني
خلاصة
تم وصف التوحد لأول مرة في تقرير مفصل لـ 11 طفلاً لديهم ميول غير عادية مماثلة. يمكن تمييز الأعراض الشائعة المثيرة للاهتمام مثل التيسير غير السليم للغة واللامبالاة تجاه الآخرين والاهتمامات الوسواسية بوضوح عند قراءة تاريخ كانر الشامل للمريض. وبعد مرور ثلاثة وعشرين عامًا، قدرت أول دراسة وبائية للتوحد معدل انتشاره بـ 4.5 لكل 10000 فرد. وقد زادت التقديرات منذ ذلك الحين بشكل كبير لتصل إلى 1 من كل 59 شخصًا مصابًا، مع تشخيص ما لا يقل عن ثلاثة أضعاف عدد الذكور المصابين من الإناث. تُعزى هذه الزيادة الكبيرة في الانتشار جزئيًا إلى كل من زيادة الوعي وتطور معايير الدليل التشخيصي والإحصائي للاضطرابات العقلية (DSM)، من شكل طفولي من أشكال الفصام في عام 1952، في عام 2013، أجرت مجموعة الاضطرابات المتقاطعة التابعة لاتحاد الجينوم النفسي دراسة ضخمة شملت 33332 حالة و278888 حالة من الضوابط من أجل تحديد المتغيرات المسببة للأمراض المشتركة بين اضطراب طيف التوحد والفصام والاضطراب ثنائي القطب واضطراب فرط الحركة ونقص الانتباه وفرط النشاط والاضطراب الاكتئابي الرئيسي. افترضت مؤخرًا أن التنظيم الجيني غير الطبيعي في الخلايا الدبقية الشعاعية والخلايا العصبية البينية خلال منتصف الحمل هو آلية للخطر المشترك، بعد استخدام GWAS لتحديد مواقع القابلية للإصابة في الجينات بما في ذلك فوسفوديستيراز 1A (PDE1A)، والوحدة الفرعية لمثبط الفوسفاتيز التنظيمي 1C (PPP1R1C)، و RHOA، وعضو عائلة الغلوبولين المناعي الفائق 11 (IGSF11)، ومستقبلات VPS10 ذات الصلة التي تحتوي على مجال VPS10 (SORC3). وقد وُجد أن اضطراب طيف التوحد والإعاقة الذهنية (ID) وانفصام الشخصية يشتركان في مواقع الخطر في أهداف برنامج الفوسفاتيز 1C، CHD5، CHD8، SCN2A.وقد تم اتباع نهج تكاملي لإيجاد نهج غير دوائي – غير جائر في تثبيط الوحدة الفرعية المثبطة التنظيمية للفوسفاتيز التنظيمي 1C (PPP1R1C)، RHOA، ولوحظ أن تطهير الكبد من السموم من “دي -Liverance”، والأيونات الثابتة -ve والماء والطعام المتأين, أوراق الغاف مع القهوة حيث أن أوراق الغاف تحتوي على الهيدروكربونات ومشتقات الأحماض الفينولية تثبط طفرات SORC3 مستقبلات ASD سواء في دراسات الدم وكذلك في المتطوعين، تم تصعيد الجرعة بعد دراسات الدم والجينوم في المختبر. وهذا يفسح المجال لإجراء المزيد من الدراسات في إنشاء مخطط أحادي لتحسين نوعية الحياة بين أطفال التوحد وتثبيط الجينوم في الوقت المناسب بطريقة طبيعية.
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