In tuberous sclerosis complex (TSC) patient cortex, somatostatin-expressing (SS…

In tuberous sclerosis complex (TSC) patient cortex, somatostatin-expressing (SST+) MGE-derived interneurons display an immature transcriptional signature including an abnormal NKCC1/KCC2 ratio, suggesting an incomplete excitatory-to-inhibitory GABAergic developmental switch — a CGE-vs-MGE lineage-selective vulnerability with implications for postnatal interneuron maturation.

{
  "n": null,
  "doi": "10.1007/s00401-024-02737-7",
  "claim": "In tuberous sclerosis complex (TSC) patient cortex, somatostatin-expressing (SST+) MGE-derived interneurons display an immature transcriptional signature including an abnormal NKCC1/KCC2 ratio, suggesting an incomplete excitatory-to-inhibitory GABAergic developmental switch — a CGE-vs-MGE lineage-selective vulnerability with implications for postnatal interneuron maturation.",
  "title": null,
  "cite_key": "Scheper2024",
  "evidence": "Body, Results: single-nuclei RNA-seq in TSC patient cortical material, with cell-type-specific marker analysis of MGE- vs CGE-derived interneurons.",
  "effect_size": "MGE-derived SST+ subpopulation shows abnormal NKCC1/KCC2 ratio and downregulated GABA-A receptor subunits relative to controls",
  "text_access": "fulltext",
  "study_system": "human cortex, snRNA-seq, TSC patients",
  "_source_cluster": "cluster_02_development_lineage",
  "replication_status": "single-study",
  "_source_cluster_index": 5,
  "claim_source_sentence": "The disrupted maturation of SST+ interneurons may undergo an incomplete switch from excitatory to inhibitory GABAergic signaling during development, resulting in reduced inhibitory properties.",
  "replication_evidence_dois": [],
  "effect_size_source_sentence": "Notably, this study reveals markers of immaturity specifically in SST+ interneurons, including an abnormal NKCC1/KCC2 ratio, indicating an imbalance in chloride homeostasis crucial for the postsynaptic consequences of GABAergic signaling as well as the downregulation of GABA A receptor subunits."
}

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