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Spontaneous and Induced Mutations

Spontaneous and Induced Mutations

Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).

Mutations

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...

Mutations

Mutations

Mutations

Mutations

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Related Experiment Video

Updated: Apr 19, 2026

A Protocol for Explant Cultures of IDH1-mutant Diffuse Low-grade Gliomas

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Published on: May 9, 2025

IDH2 mutation in gliomas including novel mutation.

Jaemoon Koh^1,2, Hwajin Cho^1,2, Hannah Kim^1,2

¹Department of Pathology, Seoul National University Hospital, Seoul, Korea.

Neuropathology : Official Journal of the Japanese Society of Neuropathology

|December 16, 2014

Summary

Isocitrate dehydrogenase (IDH) mutations are rare in glioblastomas (GBMs) but impact prognosis. This study identified IDH2 mutations in 5.2% of gliomas, including primary GBMs, revealing novel mutations and their characteristics.

Keywords:

IDH1 IDH2 astrocytoma glioblastoma oligodendroglioma

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A Protocol for Explant Cultures of IDH1-mutant Diffuse Low-grade Gliomas

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

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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

Area of Science:

Neuro-oncology
Molecular Genetics
Cancer Biology

Background:

Glioblastomas (GBMs) are aggressive primary brain tumors with poor prognosis.
Mutations in isocitrate dehydrogenase (IDH) genes (IDH1 and IDH2) are common in low-grade and secondary gliomas, correlating with better outcomes.
IDH mutations are rare in primary GBMs, but their presence influences tumor characteristics and clinical behavior.

Purpose of the Study:

To determine the incidence of IDH2 mutations in a consecutive series of gliomas.
To characterize the clinicopathological features of gliomas harboring IDH2 mutations.
To identify novel IDH2 mutations in primary GBMs.

Main Methods:

Sanger sequencing was employed to detect IDH1 and IDH2 mutations in 134 consecutive gliomas.
Clinicopathological data were collected and analyzed for gliomas with identified IDH2 mutations.

Main Results:

IDH2 mutations were identified in 7 out of 134 gliomas (5.2%).
IDH2 mutations were found in 3.3% of GBMs (3/90) and 9.0% of grades II-III gliomas (4/44).
Two primary GBM cases harbored a novel missense IDH2 mutation (c. 484C>T, p. P162S), with detailed clinicopathological characteristics reported.

Conclusions:

IDH2 mutations, though infrequent, occur in a subset of GBMs and other gliomas.
The identification of novel IDH2 mutations in primary GBMs contributes to understanding gliomagenesis and potential therapeutic targets.
Characterizing IDH2-mutated gliomas provides insights into their distinct biological and clinical profiles.