Article
Health Care Sciences & Services
Romains Joubert, Virginie Mariot, Marine Charpentier, Jean Paul Concordet, Julie Dumonceaux
Summary: Facioscapulohumeral muscular dystrophy (FSHD) is a common adult muscular dystrophy with no current treatment. Gene editing targeting DUX4 PAS at the genomic level may not be an appropriate strategy for FSHD therapy, as shown in experiments using TALEN and CRISPR-Cas9 nucleases in FSHD myoblasts.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Anatomy & Morphology
Keisuke Nakajima, Masaki Shimamura, Nobuaki Furuno
Summary: The study successfully generated a heritable X tropicalis mutant without yellow pigment, paving the way for creating a see-through frog without chromatophores.
DEVELOPMENTAL DYNAMICS
(2021)
Article
Cell & Tissue Engineering
Akihiro Kagita, Mandy S. Y. Lung, Huaigeng Xu, Yuto Kita, Noriko Sasakawa, Takahiro Iguchi, Miyuki Ono, Xiou H. Wang, Peter Gee, Akitsu Hotta
Summary: By investigating intrinsic cellular factors that affect Cas9 cleavage activity, this study found that intracellular RNA inhibits Cas9 from binding to sgRNA and reduces its enzymatic activity. Precomplexing Cas9 and sgRNA before delivery into cells can lead to higher genome editing activity, with efficiencies of single-nucleotide correction as high as 70% and loxP insertion up to 40% achieved by optimizing electroporation parameters.
Article
Endocrinology & Metabolism
Ji Min Lee, Ukjin Kim, Hyokyung Yang, Bokyeong Ryu, Jin Kim, Tetsushi Sakuma, Takashi Yamamoto, Jae-Hak Park
Summary: Recent advancements in gene editing using TALENs have facilitated the creation of genetically engineered animal models. The Nkx3.1 knockout rat model was successfully generated, revealing reduced fertility, decreased prostate weights, increased epithelial cell layers, elevated mRNA expression of genes linked to prostate carcinogenesis, and a propensity for malignant breast tumors. This model serves as a valuable tool for studying the impact of NKX3.1 deficiency on prostate health, fertility, and breast cancer development.
Article
Engineering, Marine
Dipak Pandey, Takahiro Matsubara, Taiju Saito, Yukinori Kazeto, Koichiro Gen, Tetsushi Sakuma, Takashi Yamamoto, Miyuki Mekuchi, Rie Goto
Summary: The study utilized TALEN technology to achieve gene knockout in the kawakawa slc24a5 gene, investigating gene expression and functional differences, revealing association with melanin pigment formation. Experimental results showed that most TALEN-induced mutants exhibited mosaic patterns in retinal pigment epithelium cells.
JOURNAL OF MARINE SCIENCE AND ENGINEERING
(2021)
Article
Medicine, Research & Experimental
Laura Siles, Sheila Ruiz-Nogales, Arnau Navines-Ferrer, Pilar Mendez-Vendrell, Esther Pomares
Summary: Inherited retinal dystrophies, such as Stargardt disease, lack effective treatment options. However, advances in genome editing technologies like CRISPR-Cas9 and human induced pluripotent stem cells have revolutionized disease modeling and personalized medicine. This study demonstrates precise correction of two pathogenic variants in ABCA4 genes in human induced pluripotent stem cells, providing a new avenue for developing gene and cell therapies for inherited retinal dystrophies.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2023)
Article
Biochemistry & Molecular Biology
Dantong Li, Miaoyue Hu, Huamu Chen, Xiaohong Wu, Xiaoya Wei, Hongrong Lin, Xuefei Gao, Haiyan Wang, Min Li, Albert C. M. Ong, Zhihui Yue, Liangzhong Sun
Summary: This study successfully created a knockout mouse model of the Nphp1 gene, which faithfully recapitulated the renal and extrarenal phenotypes associated with human NPH. This model will be valuable for studying Nphp1 function and developing novel treatments for this common childhood disease.
HUMAN MOLECULAR GENETICS
(2022)
Review
Pharmacology & Pharmacy
Flavia Nathiely Silveira Fachel, Lariane Francio, Edina Poletto, Roselena Silvestri Schuh, Helder Ferreira Teixeira, Roberto Giugliani, Guilherme Baldo, Ursula Matte
Summary: This article reviews the clinical and molecular characteristics of lysosomal storage disorders, with a focus on mucopolysaccharidoses, and discusses the use of gene editing techniques to ameliorate their symptoms. Early results of clinical trials suggest that gene therapy may have a significant impact on the future treatment of these diseases, although hurdles related to specific hard-to-reach organs still need to be overcome.
ADVANCED DRUG DELIVERY REVIEWS
(2022)
Article
Biochemistry & Molecular Biology
Yoko Takasu, Nobuto Yamada, Katsura Kojima, Masatoshi Iga, Fumiko Yukuhiro, Tetsuya Iizuka, Taiyo Yoshioka
Summary: The exceptional quality of silkworm silk is determined by the amino acid sequence of its silk fibroin protein. Researchers have successfully used gene knockin technology to modify the core region of the fibroin protein, resulting in the creation of artificial silk with improved mechanical properties.
INSECT BIOCHEMISTRY AND MOLECULAR BIOLOGY
(2023)
Review
Biology
Ilnaz Rahimmanesh, Maryam Boshtam, Shirin Kouhpayeh, Hossein Khanahmad, Arezou Dabiri, Shahrzad Ahangarzadeh, Yasaman Esmaeili, Elham Bidram, Golnaz Vaseghi, Shaghayegh Haghjooy Javanmard, Laleh Shariati, Ali Zarrabi, Rajender S. Varma
Summary: Beta-thalassemia is a heterogeneous blood disorder that can be treated using gene editing tools, but there are still challenges to address, such as off-target effects and immunotoxicity.
Review
Cell Biology
Eugenia V. Gurevich, Vsevolod V. Gurevich
Summary: Many neurotransmitter receptors are part of the G protein-coupled receptor (GPCR) superfamily and undergo two-step homologous desensitization. This process involves phosphorylation, binding of arrestin proteins, and initiation of different signaling pathways through arrestin.
Article
Genetics & Heredity
Ankit Sabharwal, Jarryd M. Campbell, Tanya L. Schwab, Zachary WareJoncas, Mark D. Wishman, Hirotaka Ata, Wiebin Liu, Noriko Ichino, Danielle E. Hunter, Jake D. Bergren, Mark D. Urban, Rhianna M. Urban, Shannon R. Holmberg, Bibekananda Kar, Alex Cook, Yonghe Ding, Xiaolei Xu, Karl J. Clark, Stephen C. Ekker
Summary: Mitochondria are a dynamic eukaryotic innovation that play diverse roles in biology and disease. Mitochondrial disorders are amongst the most prevalent inherited diseases, affecting roughly 1 in every 5000 individuals. Mitochondrial dysfunction is also a common component of a wide variety of other human illnesses.
Article
Oncology
Xiaomei Zhang, Xin Jin, Rui Sun, Meng Zhang, Wenyi Lu, Mingfeng Zhao
Summary: Cellular immunotherapy has achieved success with the support of gene editing technologies, and CAR-T cell therapy has been approved for marketing. As gene editing technologies continue to advance, there is a need to improve methods for gene delivery.
Article
Multidisciplinary Sciences
Bernard Lassegue, Sandeep Kumar, Rohan Mandavilli, Keke Wang, Michelle Tsai, Dong-Won Kang, Catherine Demos, Marina S. Hernandes, Alejandra San Martin, W. Robert Taylor, Hanjoong Jo, Kathy K. Griendling
Summary: The study introduced a new conditional floxed Poldip2 model to overcome limitations of the previous gene trap model, which led to the discovery of an unexpected mutation. The findings suggest that Poldip2 ablation affects multiple cellular processes, opening up new opportunities for in-depth study of its functions.
Review
Genetics & Heredity
Roya Ramezankhani, Neda Minaei, Mahnaz Haddadi, Shukoofeh Torabi, Mahdi Hesaraki, Hamed Mirzaei, Massoud Vosough, Catherine M. Verfaillie
Summary: Gene correction is a promising strategy to treat genetic diseases, with genome editing tools like CRISPR/Cas9 considered novel technologies capable of correcting genetic aberrations. While the increasing number of clinical trials show encouraging outcomes, challenges remain regarding safety and targeted delivery.