Pompe disease, also called type II glycogen storage disease, is a rare autosomal recessive inherited disease caused by the storage of glycogen in lysosome due to acid α-glucosidase (GAA) deficiency, with the most severe conditions in the skeletal muscle, the myocardium, and the smooth muscle. Patients may have the manifestations of dyspnea and dyskinesia, with or without hypertrophic cardiomyopathy. GAA gene mutation has ethnic and regional differences, and new mutation sites are found with the advances in research. Gene analysis is the gold standard for the diagnosis of Pompe disease. Conventional methods, such as skin and muscle biopsies and dried blood spot test, have certain limitations for the diagnosis of this disease. In recent years, prenatal diagnosis and newborn screening play an important role in early diagnosis of this disease. Enzyme replacement therapy (ERT) has a satisfactory effect in the treatment of this disease, but it may lead to immune intolerance. New targeted gene therapy and modified ERT will be put into practice in the future. This article reviews the research advances in the diagnosis and treatment of Pompe disease.
Animals ; Enzyme Replacement Therapy ; Glycogen Storage Disease Type II ; diagnosis ; enzymology ; genetics ; therapy ; Humans ; Targeted Gene Repair ; alpha-Glucosidases ; genetics ; metabolism

Hemophilia A(HA) is an X-linked recessive bleeding disorder caused by mutations in coagulation factor VIII. Nowadays, exogenous coagulation factor replacement therapy is the main treatment. With the continuous development of gene therapy, new research directions have been provided for the treatment of hemophilia A. CRISPR-Cas9 technology was applied to select suitable target sites, and mediate the targeted knock-in and efficient expression of exogenous B-domain-deleted FⅧ variant gene through corresponding vectors for the treatment of hemophilia A.CRISPR-Cas9 technology is an emerging gene editing tool with great efficiency, safety and effectiveness, and has been widely used in hemophilia gene therapy research. This paper reviews the vector selection, construction of therapeutic genes, gene editing technology and selection of expression target sites for hemophilia A gene therapy at this stage.
Humans ; Hemophilia A/therapy* ; CRISPR-Cas Systems ; Hemophilia B/therapy* ; Gene Editing ; Genetic Therapy ; Genetic Vectors

Recombinant adenovirus vector systems with strong promoters have been used to achieve high level production of recombinant protein. However, this overexpression system cause some problems such as disturbance of cell physiology and increment of cellular toxicity. Here, we showed a tetracycline-regulated adenovirus expression vector system. Our results showed that the expression level of transgene(p-53) was high and easily regulated by tetracycline. In addition, the maximal gene expresion level of the tetracycline-controlled gene expression system was higher than that of the wild type CMV promoter system. Therefore, tetracycline-regulated adenoviral vector system could be applicable for regulatory high-level expression of toxic gene. Also, this system will be useful for functional studies and gene therapy.
Adenoviridae* ; Cell Physiological Phenomena ; Gene Expression ; Genetic Therapy ; Tetracycline

Recent progress in the development of non-invasive imaging technologies continues to strengthen the role of molecular imaging biological research. These tools have been validated recently in variety of research models, and have been shown to provide continuous quantitative monitoring of the location (s), magnitude, and time-variation of gene expression. This article reviews the principles, characteristics, categories and the use of radionuclide reporter gene imaging technologies as they have been used in imaging cell trafficking, imaging gene therapy, imaging endogenous gene expression and imaging molecular interactions. The studies published to date demonstrate that reporter gene imaging technologies will help to accelerate pre-clinical model validation as well as allow for clinical monitoring of human diseases.
Gene Expression ; Genes, Reporter* ; Genetic Therapy ; Humans ; Molecular Imaging

The rapid progress of molecular genetic methods over the past two decades has necessitated the development of methods to detect and quantify genetic activity within living bodies. Reporter genes provide a rapid and convenient tool to monitor gene expression by yielding a readily measurable phenotype upon expression when introduced into a biological system. Conventional reporter systems, however, are limited in their usefulness for in vivo experiments or human gene therapy because of its invasive nature which requires cell damage before assays can be performed. This offers an unique opportunity for nuclear imaging techniques to develope a novel method for imaging both the location and amount of gene expression noninvasively. Current developments to achieve this goal rely on utilizing either reporter enzymes that accumulate radiolabeled substrates or reporter receptors that bind specific radioligands. This overview includes a brief introduction to the background for such research, a summary of publis hed results, and an outlook for future directions.
Gene Expression* ; Genes, Reporter ; Genetic Therapy ; Humans ; Molecular Biology ; Phenotype

OBJECTIVE: The aim of this study is to find out the genes which are related to ovarian cancer cell growth using large circular antisense library. METHODS: Clones for antisense library were uni-directionally sub-cloned into pBS SK (-) vector. LC-antisense molecules were then purified from the culture supernatants of the bacterial competent cells superinfected with M13K07 helper bacteriophages. The LC-antisense library to 240 unigene clone was constructed and utilized in the identification of genes functionally involved in the growth of ovarian cancer cells. RESULTS: The 17 numbers out of the 240 numbers of the antisense library exerted a marked inhibitory effect on the growth of SK-OV 3. CONCLUSION: The putative functional categorization of each gene was then conducted via public databases. These candidates may be used as target genes for drug development or adjuvant of conventional chemotherapeutic drugs.
Bacteriophages ; Clone Cells ; Estrone ; Gene Targeting ; Genetic Therapy ; Ovarian Neoplasms

In the 1960s, scientists first raised the idea of curing genetic diseases using gene therapy. This new conceptual strategy aimed to achieve a much longer therapeutic effect by introducing exogenous genetic materials into the patients. After more than five decades of ups and downs, gene therapy has been brought into a new era by those milestone breakthroughs in the 21st century. Here we reviewed and summarized the history and breakthroughs of gene therapy, including some critical clinical trials, approved drugs, and emerging gene editing techniques. We believe that with their unique advantages over traditional therapies, more gene therapies will become practical approaches to genetic diseases and benefit the entire human race.
CRISPR-Cas Systems ; Gene Editing ; Genetic Therapy ; Humans

Base editor (BE) is a gene-editing tool developed by combining the CRISPR/Cas system with an individual deaminase, enabling precise single-base substitution in DNA or RNA without generating a DNA double-strand break (DSB) or requiring donor DNA templates in living cells. Base editors offer more precise and secure genome-editing effects than other conventional artificial nuclease systems, such as CRISPR/Cas9, as the DSB induced by Cas9 will cause severe damage to the genome. Thus, base editors have important applications in the field of biomedicine, including gene function investigation, directed protein evolution, genetic lineage tracing, disease modeling, and gene therapy. Since the development of the two main base editors, cytosine base editors (CBEs) and adenine base editors (ABEs), scientists have developed more than 100 optimized base editors with improved editing efficiency, precision, specificity, targeting scope, and capacity to be delivered in vivo, greatly enhancing their application potential in biomedicine. Here, we review the recent development of base editors, summarize their applications in the biomedical field, and discuss future perspectives and challenges for therapeutic applications.
Humans ; Gene Editing ; CRISPR-Cas Systems ; Genetic Therapy ; DNA/genetics*

Gene therapy plays an important role in Alzheimer's disease (AD). In recent years, the research on gene delivery vector has gradually transferred from adenovirus vector, adeno-associated virus vector and lentivirus vector to liposomes and nanomaterial carrier systems. Graphene, the newest member of nanomaterial carrier system, has attracted extensive attention for its well permeability and biocompatibility. The methods of gene therapy can be divided into direct and indirect method. The stem cell therapy, which is the most-well studied one, belongs to the indirect method. In the gene therapy of AD, the selection of appropriate carrier and method will determine the therapeutic effect.
Alzheimer Disease ; therapy ; Dependovirus ; Gene Transfer Techniques ; Genetic Therapy ; Genetic Vectors ; Humans

β-thalassemia is a monogenetic inherited hemolytic anemia, which results in a series of pathophysiological changes due to partial or complete inhibition of the synthesis of β-globin chain. The curative therapy for this disease is to reconstitute hematopoiesis, and transplantation with genetically modified autologous hematopoietic stem cells can avoid the major difficulties of traditional allogeneic hematopoietic stem cell transplantation，such as HLA matching and immune rejection. β-thalassemia gene therapy strategies mainly include gene integration and genome editing. The former relies on the development of lentiviral vectors and adds a fully functional HBB gene to the chromosome; the latter rapidly develops with the research of specific nuclease which can repair the HBB gene in situ. In this review, the latest progress of the two strategies in gene therapy of β-thalassemia is summarized.
Gene Editing ; Genetic Therapy ; Genetic Vectors ; Humans ; beta-Globins/genetics* ; beta-Thalassemia/therapy*