International Journal of Molecular Medical Science, 2024, Vol.14, No.1, 1-7 http://medscipublisher.com/index.php/ijmms 3 Figure 1 Differences between fragile X syndrome X chromosome and normal chromosome Gene editing technology can also restore the normal function of genes associated with polygenic genetic diseases by replacing mutations in multiple genes. By simultaneously inserting multiple normal gene sequences, it is possible to ameliorate the pathological consequences of polygenic mutations. This method is applicable to polygenic genetic diseases such as chromosomal abnormality syndromes. Gene editing technology can also be employed to regulate the expression levels of multiple genes. By precisely editing the regulatory sequences of genes, it is possible to increase or decrease the expression of multiple genes, thereby influencing disease-relevant signaling pathways. This method can be applied in certain polygenic genetic diseases, such as polygenic tumors. 2 Gene Therapy in the Treatment of Genetic Diseases 2.1 Definition of gene therapy Gene therapy is a medical technique aimed at treating or preventing diseases by directly intervening in the human genome. It involves the introduction, modification, or deletion of gene sequences into the cells or tissues of patients to repair or alter abnormal or missing gene functions. The goal of gene therapy is to adjust or repair genes, restoring mutated genes or supplementing missing or abnormal genes to achieve therapeutic effects. The potential of this treatment lies in its ability to fundamentally impact the occurrence and progression of diseases. Gene therapy can take various forms, including gene replacement therapy, gene editing therapy, gene enhancement therapy, gene silencing therapy, and more. 2.2 Application of gene therapy in the treatment of genetic diseases 2.2.1 Application in the treatment of monogenic genetic diseases Gene therapy has made significant strides in the treatment of monogenic genetic diseases (Zhou et al., 2020). Gene replacement therapy aims to replace defective genes with normal gene sequences to restore normal gene function. This method can be achieved by introducing normal genes into the cells or tissues of patients. For instance, for patients with cystic fibrosis (Figure 2), normal CFTR genes can be introduced into lung cells to restore the function of chloride ion channels. Gene editing therapy involves directly modifying the patient's gene sequence to correct mutations, insertions, deletions, and other genetic abnormalities. This method utilizes tools such as CRISPR-Cas9 to perform precise gene editing targeted at specific gene mutations. For example, gene editing therapy can be employed to repair mutated genes in hematopoietic stem cells of patients with blood disorders, thereby correcting abnormalities in hemoglobin.
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