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Tay-Sachs and Sandhoff Diseases: Diffusion tensor imaging and correlational fiber tractography findings differentiate late-onset GM2 Gangliosidosis.
medRxiv
December 2024
Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda MD USA.
GM2 gangliosidosis is lysosomal storage disorder caused by deficiency of the heterodimeric enzyme β-hexosaminidase A. Tay-Sachs disease is caused by variants in encoding the α-subunit and Sandhoff disease is caused by variants in encoding the β-subunit. Due to shared clinical and biochemical findings, the two have been considered indistinguishable.
View Article and Find Full Text PDFPrecise template-free correction restores gene function in Tay-Sachs disease while reframing is ineffective.
Mol Ther Nucleic Acids
March 2025
Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G0A4, Canada.
Tay-Sachs disease is a fatal neurodegenerative disorder caused by mutations inactivating the metabolic enzyme HexA. The most common mutation is c.1278insTATC, a tandem 4-bp duplication disrupting expression by frameshift.
View Article and Find Full Text PDF4-Phenylbutyric acid mitigates ER stress-induced neurodegeneration in the spinal cords of a GM2 gangliosidosis mouse model.
Hum Mol Genet
January 2025
Department of Biology, McMaster University, 1280 Main St. W., Hamilton, ON L8S 4K1, Canada.
Sandhoff disease (SD), a fatal and rare lysosomal storage disorder (LSD), is caused by a deficiency of the enzyme β-hexosaminidase B and leads to severe accumulation of GM2 gangliosides in lysosomes, primarily within the central nervous system (CNS). This accumulation results in severe neurological impairment, lower motor neuron disease, and death. Currently, there are no effective therapies available for SD.
View Article and Find Full Text PDFAbnormally accumulated GM2 ganglioside contributes to skeletal deformity in Tay-Sachs mice.
J Mol Med (Berl)
December 2024
Izmir Institute of Technology, IYTEDEHAM, Urla, Izmir, Turkey.
Tay-Sachs Disease is a rare lysosomal storage disorder caused by mutations in the HEXA gene, responsible for the degradation of ganglioside GM2. In addition to progressive neurodegeneration, Tay-Sachs patients display bone anomalies, including kyphosis. Tay-Sachs disease mouse model (Hexa-/-Neu3-/-) shows both neuropathological and clinical abnormalities of the infantile-onset disease phenotype.
View Article and Find Full Text PDFArticle Synopsis
- Tay-Sachs disease (TSD) is often underdiagnosed due to its symptoms resembling other neurological disorders; the study focuses on identifying genetic mutations in a late-onset TSD patient.
- Whole-exome sequencing identified two mutations associated with TSD, confirming the novel mutation's pathogenicity through various assays, highlighting the need for advanced genomic technologies in diagnoses.
- The research underscores the diagnostic challenges posed by similar symptoms and the importance of genetic awareness among clinicians to improve patient outcomes and inform future treatment options.
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