Autism-associated neuroligin 3 deficiency in medial septum causes social deficits and sleep loss in mice

J Clin Invest. 2024 Jul 26;134(19):e176770. doi: 10.1172/JCI176770.

Abstract

Patients with autism spectrum disorder (ASD) frequently experience sleep disturbance. Genetic mutations in the neuroligin 3 (NLG3) gene are highly correlative with ASD and sleep disturbance. However, the cellular and neural circuit bases of this correlation remain elusive. Here, we found that the conditional knockout of Nlg3 (Nlg3-CKO) in the medial septum (MS) impairs social memory and reduces sleep. Nlg3 CKO in the MS caused hyperactivity of MSGABA neurons during social avoidance and wakefulness. Activation of MSGABA neurons induced social memory deficits and sleep loss in C57BL/6J mice. In contrast, inactivation of these neurons ameliorated social memory deficits and sleep loss in Nlg3-CKO mice. Sleep deprivation led to social memory deficits, while social isolation caused sleep loss, both resulting in a reduction in NLG3 expression and an increase in activity of GABAergic neurons in the MS from C57BL/6J mice. Furthermore, MSGABA-innervated CA2 neurons specifically regulated social memory without impacting sleep, whereas MSGABA-innervating neurons in the preoptic area selectively controlled sleep without affecting social behavior. Together, these findings demonstrate that the hyperactive MSGABA neurons impair social memory and disrupt sleep resulting from Nlg3 CKO in the MS, and achieve the modality specificity through their divergent downstream targets.

Keywords: Behavior; Neurological disorders; Neuroscience.

MeSH terms

  • Animals
  • Autism Spectrum Disorder / genetics
  • Autism Spectrum Disorder / metabolism
  • Autism Spectrum Disorder / physiopathology
  • Cell Adhesion Molecules, Neuronal* / deficiency
  • Cell Adhesion Molecules, Neuronal* / genetics
  • Cell Adhesion Molecules, Neuronal* / metabolism
  • GABAergic Neurons / metabolism
  • GABAergic Neurons / pathology
  • Male
  • Membrane Proteins / deficiency
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism
  • Memory Disorders / genetics
  • Memory Disorders / metabolism
  • Memory Disorders / physiopathology
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout*
  • Nerve Tissue Proteins* / deficiency
  • Nerve Tissue Proteins* / genetics
  • Nerve Tissue Proteins* / metabolism
  • Septal Nuclei / metabolism
  • Septal Nuclei / physiopathology
  • Sleep Deprivation / genetics
  • Sleep Deprivation / metabolism
  • Sleep Deprivation / physiopathology
  • Sleep Wake Disorders / genetics
  • Sleep Wake Disorders / metabolism
  • Sleep Wake Disorders / pathology
  • Sleep Wake Disorders / physiopathology
  • Social Behavior

Substances

  • Cell Adhesion Molecules, Neuronal
  • Nerve Tissue Proteins
  • neuroligin 3
  • Membrane Proteins

Grants and funding

This study was supported by the National Natural Science Foundation of China (31970944 to Shuming An, 82101309 to Haiyan Sun, 82130033, 81720108013, 81230025 to J.-L. Cao,and 91632201 to W.X.)