Sphingolipidoses are defined as a group of rare hereditary diseases resulting from mutations in the genes encoding lysosomal enzymes. This group of lysosomal storage diseases includes more than 10 genetic disorders, including GM1-gangliosidosis, Tay-Sachs disease, Sandhoff disease, the AB variant of GM2-gangliosidosis, Fabry disease, Gaucher disease, metachromatic leukodystrophy, Krabbe disease, Niemann-Pick disease, Farber disease, etc. Enzyme deficiency results in accumulation of sphingolipids in various cell types, and the nervous system is also usually affected. There are currently no known effective methods for the treatment of sphingolipidoses; however, gene therapy seems to be a promising therapeutic variant for this group of diseases. In this review, we discuss gene therapy approaches for sphingolipidoses that are currently being investigated in clinical trials, among which adeno-associated viral vector-based approaches and transplantation of hematopoietic stem cells genetically modified with lentiviral vectors seem to be the most effective.
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http://dx.doi.org/10.3390/ijms24043627 | DOI Listing |
Sci Prog
January 2025
Department of Obstetrics and Gynecology, Hebei Medical University Third Hospital, Shijiazhuang, China.
Objective: Endometrial cancer (EC) is a malignant tumor with various histological subtypes and molecular phenotypes. The evaluation of drug resistance is important for cancer treatment. Progesterone resistance is the major challenge in EC.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
January 2025
Department of Urology, The First Affiliated Hospital of Jinzhou Medical University, Jinzhou Medical University, Jinzhou, Liaoning, China.
Objective: The impact of lipid-lowering medications on chronic kidney disease (CKD) remains a subject of debate. This Mendelian randomization (MR) study aims to elucidate the potential effects of lipid-lowering drug targets on CKD development.
Methods: We extracted 11 genetic variants encoding targets of lipid-lowering drugs from published genome-wide association study (GWAS) summary statistics, encompassing LDLR, HMGCR, PCSK9, NPC1L1, APOB, ABCG5/ABCG8, LPL, APOC3, ANGPTL3, and PPARA.
Chem Sci
January 2025
Division of Organic Chemistry, National Institute of Health Sciences 3-25-26 Tonomachi Kawasaki Kanagawa 210-9501 Japan
[This corrects the article DOI: 10.1039/D4SC05606J.].
View Article and Find Full Text PDFCureus
December 2024
Radiodiagnosis, Malla Reddy Medical College for Women, Hyderabad, IND.
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic stem cell disorders commonly characterized by excessive production of blood cell lineages. The JAK2 V617F mutation plays a crucial role in the pathogenesis of these conditions, often leading to thrombotic complications. Here, we present the case of a 21-year-old man who presented with acute abdominal pain and was found to have portal vein thrombosis with splenomegaly.
View Article and Find Full Text PDFMycobacteriophages are viruses that specifically infect bacteria of the Mycobacterium genus. A substantial collection of mycobacteriophages has been isolated and characterized, offering valuable insights into their diversity and evolution. This collection also holds significant potential for therapeutic applications, particularly as an alternative to antibiotics in combating drug-resistant bacterial strains.
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