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Editing of homologous globin genes by nickase-deficient base editor mitigates large intergenic deletions in HSPCs.
Mol Ther Nucleic Acids
December 2024
Centre for Stem Cell Research (a Unit of inStem, Bengaluru), Christian Medical College Campus, Vellore, Tamil Nadu 632002, India.
Article Synopsis
- Recent studies indicate that base editing can cause significant deletions in specific gene regions, which may reduce its therapeutic effectiveness even when fewer deletions occur compared to traditional Cas9 methods.
- The research explores using a dCas9 fusion of ABE8e instead of nickaseCas9 to maintain editing efficiency while minimizing these deletions in human hematopoietic stem and progenitor cells (HSPCs).
- Findings reveal that dABE8e allows for effective editing without creating large deletions, leading to a safer method for genome editing with improved precision.
Structural and functional characterization of haemoglobin genes in Labeo catla: Insights into hypoxic adaptation and survival.
Int J Biol Macromol
November 2024
ICAR- Directorate of Coldwater Fisheries and Research, Bhimtal, Uttarakhand, India. Electronic address:
Article Synopsis
- - The study focused on the haemoglobin protein structure in Labeo catla, highlighting the encoding of its subunits (α and β) by HBA and HBB genes, which were sequenced to get their complete coding sequences.
- - Phylogenetic analysis indicated that Labeo catla is closely related to other cyprinid fish, particularly Labeo rohita, and bioinformatics tools were used to predict gene function and protein structure.
- - Under hypoxic conditions, both HBA and HBB genes were found to be significantly upregulated, leading to increased haematological indices; however, a subsequent decrease in their expression resulted in higher mortality rates among the fish.
In situ implantable DNA hydrogel for diagnosis and therapy of postoperative rehemorrhage following intracerebral hemorrhage surgery.
Sci Adv
August 2024
School of Pharmaceutical Sciences, Zhengzhou University, Zhengzhou 450001, China.
Article Synopsis
- * The hydrogel not only self-diagnoses rehemorrhage by capturing Hb but also gradually releases the drug deferoxamine (DFO), which helps protect nerve cells from damage.
- * Testing in a model showed that the hydrogel significantly improved iron absorption efficiency and reduced hematoma size, suggesting its potential to improve outcomes for patients after hemorrhage surgery.
Hb H disease associated with compound heterozygosity for -- deletion and a novel alpha globin chain variant (:c.175C>A) on the distal histidine in a Chinese family.
Hematology
December 2024
Prenatal Diagnostic Center, Dongguan Maternal and Children Health Hospital, Dongguan, People's Republic of China.
Objectives: In clinical practice, the majority of α-thalassaemia cases arise from deletions of the α-globin genes. However, a subset of cases is attributed to rare haemoglobin variants, which can manifest with borderline or normal screening results, potentially leading to missed diagnoses in clinical practice.
Methods: Blood samples were collected from family members and underwent haematological, DNA and RNA analysis.
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