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Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior.
Creson, Thomas K; Rojas, Camilo; Hwaun, Ernie; Vaissiere, Thomas; Kilinc, Murat; Jimenez-Gomez, Andres; Holder, Jimmy Lloyd; Tang, Jianrong; Colgin, Laura L; Miller, Courtney A; Rumbaugh, Gavin.
Afiliación
  • Creson TK; Department of Neuroscience, The Scripps Research Institute, Jupiter, United States.
  • Rojas C; Department of Molecular Medicine, The Scripps Research Institute, Jupiter, United States.
  • Hwaun E; Department of Neuroscience, The Scripps Research Institute, Jupiter, United States.
  • Vaissiere T; Department of Molecular Medicine, The Scripps Research Institute, Jupiter, United States.
  • Kilinc M; Department of Neuroscience, Institute for Neuroscience, Center for Learning and Memory, University of Texas at Austin, Austin, United States.
  • Jimenez-Gomez A; Department of Neuroscience, The Scripps Research Institute, Jupiter, United States.
  • Holder JL; Department of Molecular Medicine, The Scripps Research Institute, Jupiter, United States.
  • Tang J; Department of Neuroscience, The Scripps Research Institute, Jupiter, United States.
  • Colgin LL; Department of Molecular Medicine, The Scripps Research Institute, Jupiter, United States.
  • Miller CA; Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, United States.
  • Rumbaugh G; Department of Pediatrics, Baylor College of Medicine, Houston, United States.
Elife ; 82019 04 26.
Article en En | MEDLINE | ID: mdl-31025938
It remains unclear to what extent neurodevelopmental disorder (NDD) risk genes retain functions into adulthood and how they may influence disease phenotypes. SYNGAP1 haploinsufficiency causes a severe NDD defined by autistic traits, cognitive impairment, and epilepsy. To determine if this gene retains therapeutically-relevant biological functions into adulthood, we performed a gene restoration technique in a mouse model for SYNGAP1 haploinsufficiency. Adult restoration of SynGAP protein improved behavioral and electrophysiological measures of memory and seizure. This included the elimination of interictal events that worsened during sleep. These events may be a biomarker for generalized cortical dysfunction in SYNGAP1 disorders because they also worsened during sleep in the human patient population. We conclude that SynGAP protein retains biological functions throughout adulthood and that non-developmental functions may contribute to disease phenotypes. Thus, treatments that target debilitating aspects of severe NDDs, such as medically-refractory seizures and cognitive impairment, may be effective in adult patients.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Conducta / Encéfalo / Envejecimiento / Proteínas Activadoras de ras GTPasa Límite: Animals / Female / Humans / Male Idioma: En Revista: Elife Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Conducta / Encéfalo / Envejecimiento / Proteínas Activadoras de ras GTPasa Límite: Animals / Female / Humans / Male Idioma: En Revista: Elife Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido