Related Experiment Video

Updated: Feb 8, 2026

Primary Orthotopic Glioma Xenografts Recapitulate Infiltrative Growth and Isocitrate Dehydrogenase I Mutation
09:43

Primary Orthotopic Glioma Xenografts Recapitulate Infiltrative Growth and Isocitrate Dehydrogenase I Mutation

Published on: January 14, 2014

8.5K

A recurrent point mutation in PRKCA is a hallmark of chordoid gliomas

Shai Rosenberg1,2, Iva Simeonova1, Franck Bielle1,3

  • 1Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, ICM, F-75013, Paris, France.

Nature Communications
|June 20, 2018
PubMed

Insights

Researchers identified a specific mutation in Protein kinase C alpha (PKCα) as a hallmark of chordoid glioma. This PRKCAD463H mutation drives tumor growth by affecting protein translation and cell membrane interactions.

Area of Science:

  • Neuro-oncology
  • Molecular Biology
  • Cancer Genomics

Background:

  • Chordoid glioma (ChG) is a rare, slow-growing diencephalic tumor.
  • The genetic underpinnings of ChG have remained largely unknown.

Purpose of the Study:

  • To elucidate the mutational landscape of chordoid glioma.
  • To identify key molecular drivers of ChG oncogenesis.

Main Methods:

  • Whole-exome sequencing of 16 ChG samples.
  • RNA-sequencing to analyze gene expression and mutations.

Main Results:

  • A recurrent PRKCAD463H mutation was identified in 15 out of 16 ChG tumors.
  • This mutation activates the EIF2 protein translation initiation pathway.
  • The mutant PKCα protein is less stable and depleted from the cell membrane, enhancing astrocyte and tanycyte proliferation.

Conclusions:

  • The PRKCAD463H mutation is the hallmark genetic alteration in chordoid glioma.
  • This discovery provides critical mechanistic insights into ChG development and potential therapeutic targets.

More Related Videos

Tumor Treating Field Therapy in Combination with Bevacizumab for the Treatment of Recurrent Glioblastoma06:15

Tumor Treating Field Therapy in Combination with Bevacizumab for the Treatment of Recurrent Glioblastoma

Published on: October 27, 2014

27.9K
Measuring Microbial Mutation Rates with the Fluctuation Assay07:44

Measuring Microbial Mutation Rates with the Fluctuation Assay

Published on: November 28, 2019

24.9K

Related Concept Videos

Mutations01:39

Mutations

Overview
94.6K
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
44.6K
Viral Mutations00:36

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
39.9K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
64.5K
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
1.2K
Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
751