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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

Nucleotide Excision Repair

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...

Nucleotide Excision Repair

Nucleotide Excision Repair

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...

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).

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A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

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Published on: July 14, 2016

Photosensitivity and CHD2 Variants.

Rebecca García Sosa¹, Srishti Nangia¹

¹Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.

Pediatric Neurology Briefs

|March 3, 2016

Summary

This summary is machine-generated.

Disruption of the CHD2 gene, which provides instructions for chromodomain helicase DNA-binding protein 2, is linked to photosensitive epilepsy. This genetic factor may contribute to seizures triggered by light.

Keywords:

Eyelid Myoclonia with Absences Photosensitive Seizure

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Area of Science:

Genetics
Neurology
Epilepsy Research

Background:

Photosensitive epilepsy (PSE) is a neurological disorder characterized by seizures triggered by visual stimuli.
The genetic underpinnings of PSE are not fully understood, necessitating further investigation into potential causative genes.
Chromodomain helicase DNA-binding protein 2 (CHD2) is a gene involved in DNA repair and chromatin remodeling.

Purpose of the Study:

To investigate the association between disruptions in the CHD2 gene and the occurrence of photosensitive epilepsy.
To determine if CHD2 gene disruption is linked to photosensitivity presenting as a photoparoxysmal response.

Main Methods:

The study involved an analysis of genetic data from individuals with and without photosensitive epilepsy.
Investigated mutations or variations within the CHD2 gene in the study cohort.
Correlated genetic findings with clinical epilepsy phenotypes, specifically photosensitivity.

Main Results:

Preliminary findings suggest a potential association between disruptions in the CHD2 gene and photosensitive epilepsy.
The study explored the role of CHD2 in the manifestation of photoparoxysmal responses in epilepsy patients.

Conclusions:

Disruptions in the CHD2 gene may represent a genetic risk factor for developing photosensitive epilepsy.
Further research is warranted to elucidate the precise mechanisms by which CHD2 influences photosensitivity and epilepsy.