Use of the CRISPR-Cas9 System for Modeling Genetic Diseases Caused by Point Mutations

دسته بندی موضوعی : علوم سلامت (پزشکی و پیراپزشکی)

زبان : انگلیسی

نوع فایل : PDF

تعداد صفحات : 6

وضعیت : این مقاله جهت انتشار مستقیم در ایران ژورنال می باشد

تاریخ انتشار : 1405/2/16

نویسندگان :
محمدعلی جعفری دانشجو mohammadalijf84@gmail.com
پردیس حسین نژاد دانشجو pardis.hoseinnejad@gmail.com

داوران :

الهام کهزادی استاد دانشگاه elhamkohzadi62@gmail.com

ثبت شده توسط : محمدعلی جعفری

لینک مستقیم مقاله : https://iran-journals.com/doc/2417

چکیده فارسی :

Genetic diseases caused by point mutations, in which a change in only a single nucleotide within the DNA sequence can lead to severe physiological disorders, are considered one of the major challenges in the field of molecular medicine. A precise understanding of the pathophysiological mechanisms of these diseases requires the development of accurate cellular models capable of reconstructing these specific mutations within a controlled genetic background. Such models are essential tools for studying gene function, identifying disrupted signaling pathways, and screening potential therapeutic compounds.
Based on current knowledge, even a single nucleotide alteration can completely disrupt the structure and function of the encoded protein and lead to debilitating diseases. In the past, generating cellular models for these types of diseases was a time-consuming, costly process with often low efficiency. However, the emergence of the CRISPR-Cas9 system as a revolutionary gene-editing technology has opened new horizons in this field. This system, by providing unprecedented precision, speed, and effectiveness, enables accurate genome engineering in living cells.

The main objective of this research proposal is to utilize the CRISPR-Cas9 system to create two types of highly specific cellular models:
• Knock-out (KO) models, in which the expression of a disease-related gene is completely eliminated;
• Knock-in (KI) models, in which a disease-causing point mutation is precisely recreated in a healthy cell line.
This approach allows us to study the effect of a specific mutation in isolation and provides a reliable platform for future investigations.

کلمات کلیدی فارسی :
زیست شناسی ، بیماری های ژنتیکی ، روش های نوین مدل سازی ، تغییرات ژنتیکی ، رونویسی DNA