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Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior

by Miller, Courtney A , Creson, Thomas K , Jimenez-Gomez, Andres , Vaissiere, Thomas , Holder, Jimmy Lloyd , Colgin, Laura L , Rojas, Camilo , Tang, Jianrong , Hwaun, Ernie , Kilinc, Murat , Rumbaugh, Gavin

in Action Potentials / Aging - metabolism / Animals / Autism / Behavior / Behavior, Animal / biomarker / Brain / Brain - metabolism / Brain research / circuits / Cognitive ability / Convulsions & seizures / Cortex / Developmental disabilities / Electroencephalography / Epilepsy / Female / Gene expression / Genes / Genetic aspects / Haploinsufficiency / Health aspects / Humans / Intellectual disabilities / Male / Medicine / Memory / Mice / Mice, Mutant Strains / mouse model / Neurodevelopmental disorders / Neurophysiology / Neuroscience / Neurosciences / Patients / Phenotypes / Proteins / ras GTPase-Activating Proteins - metabolism / Research centers / reversal / Seizures / Seizures (Medicine) / Seizures - metabolism / Seizures - physiopathology / Sleep / Wakefulness

2019

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Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior

2019

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Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior

2019

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Journal Article

Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior

Miller, Courtney A,

Creson, Thomas K,

Jimenez-Gomez, Andres,

Vaissiere, Thomas,

Holder, Jimmy Lloyd,

Colgin, Laura L,

Rojas, Camilo,

Tang, Jianrong,

Hwaun, Ernie,

Kilinc, Murat,

Rumbaugh, Gavin

2019

Overview

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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Publisher

eLife Science Publications, Ltd,eLife Sciences Publications Ltd,eLife Sciences Publications, Ltd

Subject

Action Potentials

/ Aging - metabolism

/ Animals

/ Autism

/ Behavior

/ Behavior, Animal

/ biomarker