Graphical summary. Credit score: Journal of Medical Investigation (2025). DOI: 10.1172/JCI182584
Dravet syndrome and different developmental epileptic encephalopathies are uncommon however devastating situations that trigger a bunch of signs in youngsters, together with seizures, mental incapacity, and even sudden loss of life.
Most circumstances are brought on by a genetic mutation; Dravet syndrome specifically is most frequently brought on by variants within the sodium channel gene SCN1A.
Latest analysis from Michigan Drugs takes intention at one other variant in SCN1B, which causes an much more extreme type of DEE.
Mice with out the SCN1B gene expertise seizures and 100% mortality simply three weeks after beginning.
Utilizing mouse fashions, the investigative workforce, led by Chunling Chen, M.D., and Yukun Yuan, M.D., Ph.D., within the lab of Lori Isom, Ph.D., of the Division of Pharmacology on the Medical Faculty, examined a gene remedy to exchange SCN1B to extend the expression of beta-1 protein, which is important for the regulation of sodium channels within the mind.
Administering the remedy to new child mice elevated their survival, diminished the severity of their seizures and restored mind neuron excitability.
The workforce notes that completely different types of SCN1B gene expression could lead to completely different outcomes for the remedy.
Nonetheless, the proof-of-concept is step one towards a gene substitute remedy for SCN1B-linked developmental and epileptic encephalopathy.
The paper, “Neonatal but not Juvenile Gene Therapy Reduces Seizures and Prolongs Lifespan in SCN1B-Dravet Syndrome Mice,” is revealed within the Journal of Medical Investigation.
Extra info:
Chunling Chen et al, Neonatal however not Juvenile Gene Remedy Reduces Seizures and Prolongs Lifespan in SCN1B-Dravet Syndrome Mice, Journal of Medical Investigation (2025). DOI: 10.1172/JCI182584
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College of Michigan
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Gene remedy for uncommon epilepsy exhibits promise in mice (2025, February 14)
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