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Mutations

Mutations

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...

Covalently Linked Protein Regulators

Covalently Linked Protein Regulators

Proteins can undergo many types of post-translational modifications, often in response to changes in their environment. These modifications play an important role in the function and stability of these proteins. Covalently linked molecules include functional groups, such as methyl, acetyl, and phosphate groups, and also small proteins, such as ubiquitin. There are around 200 different types of covalent regulators that have been identified.
These groups modify specific amino acids in a protein....

Viral Mutations

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...

Typical Model Studies

Typical Model Studies

Fluid mechanics model studies often utilize scaled-down systems to predict fluid behavior in full-scale environments, such as river flows, dam spillways, and structures interacting with open surfaces. Maintaining Froude number similarity in river models is crucial, as it replicates surface flow features like wave patterns and velocities.

Mutation, Gene Flow, and Genetic Drift

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).

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Related Experiment Video

Updated: Jan 30, 2026

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis ALS

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis ALS

Published on: February 21, 2011

Typical bulbar ALS can be linked to GARS mutation.

P Corcia^1,2,3, C Brulard³, S Beltran^1,2,3

¹a ALS Reference Centre, CHU de Tours.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration

|January 22, 2019

Summary

A novel GARS gene mutation was identified in a patient with amyotrophic lateral sclerosis (ALS), a motor neuron disorder. This finding expands the known genetic links between ALS and other motor neuron diseases.

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Last Updated: Jan 30, 2026

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis ALS

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Published on: February 21, 2011

ALS - Motor Neuron Disease: Mechanism and Development of New Therapies

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A Quick Phenotypic Neurological Scoring System for Evaluating Disease Progression in the SOD1-G93A Mouse Model of ALS

Published on: October 6, 2015

Area of Science:

Neurology
Genetics
Molecular Biology

Background:

Amyotrophic lateral sclerosis (ALS) is a prevalent adult motor neuron disorder (MND).
Over 30 genes are currently associated with ALS, highlighting the role of genetic factors.
Distal hereditary motor neuropathies (dHMN) have also been extensively studied genetically.

Observation:

GARS gene mutations are typically linked to dHMN.
No GARS gene mutations had been previously reported in other MND.
A 70-year-old woman presented with a bulbar ALS phenotype and a family history of ALS.

Findings:

Genetic screening revealed a heterozygous missense mutation in the GARS gene.
The identified GARS mutation is highly likely to be pathogenic.
This is the first documented instance of a GARS gene mutation in ALS.

Implications:

This discovery broadens the understanding of genetic overlap between ALS and other MND.
It suggests GARS may play a role in the pathogenesis of ALS.
Further research into GARS in MND is warranted.