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Updated: Feb 13, 2026

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
Published on: September 4, 2011
Integrated Clinical Genetic Analysis Reveals Transcriptional Neurotransmitter Receptor Dysregulation in Meningiomas
A Basit Khan1, Malcolm F McDonald2,3, Collin English2
1Department of Neurosurgery, University of Oklahoma, Oklahoma City, Oklahoma, USA.
Background And Objectives:
Clinical risk factors for seizure presentation in meningioma patients have been reported, but molecular correlates of seizures in meningioma remain unexplored.
Methods:
We assessed a total of 144 primary meningiomas for clinical data and performed bulk RNA sequencing (n = 141), whole-exome sequencing (n = 35), targeted DNA sequencing (n = 67), and DNA methylation analysis (n = 62).
Results:
Clinically, seizure presentation was associated with higher rates of emergency room presentation (P = .005), altered consciousness (P = .014), and fewer headaches (P = .015). Radiographically, seizure presentation correlated with higher rates of cerebral edema (P = .005), nonhomogenous enhancement (P = .001), and intratumoral calcification (P = .034). Pathologically, seizure presenting tumors had higher molecular immunology borstel 1 index (P = .001) and cellular atypia in World Health Organization grade 1 tumors (P = .023) but were not associated with World Health Organization grade 2 status (P = .059). There was no difference in rates of canonical mutations between groups. Chromosome 14q loss was enriched in the seizure group (P = .004). Seizure presentation was associated with the Molecular Group C (MenG C) (P = .023). Transcriptomic analysis revealed downregulation of GABAergic signaling, synaptic pathways, and neurotransmitter receptors in meningiomas causing seizure. Dysregulated genes included both MenG C-specific (GABRG1, GRIA1, DKK2) and seizure-specific/MenG-independent (GABRA3, GABRQ, GRIK3, NPY1R) genes.
Conclusion:
Here, we show that seizure causing meningiomas demonstrate distinct clinical, radiographic, chromosomal, and transcriptional features. Novel associations with seizure presentation in meningioma include MenG C status, chromosome 14q loss, and seizure-specific dysregulation of neurotransmitter receptor genes.
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Neurotransmitters
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Transcription
Transcription is the process of synthesizing RNA from a DNA sequence by RNA polymerase. It is the first step in producing a protein from a gene sequence. Additionally, many other proteins and regulatory sequences are involved in the proper synthesis of messenger RNA (mRNA). Regulation of transcription is responsible for the differentiation of all the different types of cells and often for the proper cellular response to environmental signals.
Transcription Can Produce Different Kinds...
G-protein Coupled Receptors
Genetics of Speciation
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