Understanding Charcot-Marie-Tooth Through CRISPR/Cas9-Mediated Gene Editing
Understanding Charcot-Marie-Tooth Through CRISPR/Cas9-Mediated Gene Editing
Zahra Torki,1,*Mohammad Reza Alivand,2
1. Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran 2. Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
Introduction: A diverse collection of hereditary illnesses known as Charcot-Marie-Tooth (CMT) disease manifests as a chronic, progressive neuropathy that impairs both the motor and sensory neurons. Autosomal dominant is the most prevalent inheritance pattern, while there are X-linked and autosomal recessive variants. A multitude of genes are linked to CMT, demonstrating the variability of this condition, in addition to a range of inheritance patterns.
Methods: This review focuses on the usage of CRISPR/Cas9 as a genome editing tool in in vivo and in vitro CMT models in order to have a better comprehension of current developments in CRISPR/Cas9-mediated genome editing and how they might be used to treat CMT.
Results: CRISPR/Cas9 can shed light on the pathophysiology and underlying genetics of CMT since it has been used to compare the phenotypes of patient-derived and gene-corrected induced pluripotent stem cells (iPSCs) and to confirm the impact of CMT-related mutations in animal models and patient-derived iPSCs.
Conclusion: The pathophysiology of CMT has also been studied using this technique to produce mutations. Here, we bring current research that makes use of CRISPR/Cas9 to comprehend the genetic foundations of CMT.