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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...

Loss of Tumor Suppressor Gene Functions

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...

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...

Line Loss

Line Loss

The different configurations of source-load connections include wye (star) and delta connections. The relationship between line and phase voltages and currents varies depending on the configuration. When the source is supplying power, it is transmitted through the wires to the load, and during this transmission, some power is absorbed by the wires, leading to line loss.
Line loss impacts power delivery efficiency in a balanced three-phase circuit. The symmetry in such a circuit simplifies the...

Reducing Line Loss

Reducing Line Loss

In a three-phase circuit, line loss is an indicator of energy dissipated as heat due to the resistance of transmission lines. To address this, incorporating transformers into the system—a step-up transformer at the source and a step-down transformer at the load—is a strategic solution. Two three-phase transformers are introduced to improve this.
With a step-up transformer at the source, the voltage is increased, thereby reducing the current in the transmission lines since power loss in...

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Related Experiment Video

Updated: Jan 22, 2026

Retrograde Neuroanatomical Tracing of Phrenic Motor Neurons in Mice

Retrograde Neuroanatomical Tracing of Phrenic Motor Neurons in Mice

Published on: February 22, 2018

Progressive neuroanatomical changes caused by Grin1 loss-of-function mutation.

Katheron Intson¹, Matthijs C van Eede², Rehnuma Islam³

¹Department of Pharmacology & Toxicology, University of Toronto, 1 King's College Circle, Medical Sciences Building, Toronto, ON, Canada.

Neurobiology of Disease

|July 13, 2019

Summary

This summary is machine-generated.

Loss-of-function mutations in the Grin1 gene cause brain structural changes detectable by MRI. These NMDA receptor (NMDAR) deficits impact dopaminergic and limbic systems, indicating ongoing neurodegeneration.

Keywords:

Autism Encephalopathy GRIN1 GluN1 MRI NMDA NR1 Neurodevelopment Schizophrenia Volumetric change White matter

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Published on: March 10, 2023

Area of Science:

Neuroscience
Genetics
Medical Imaging

Background:

NMDA receptor (NMDAR) dysfunction is implicated in encephalopathies linked to mutations in NMDAR subunit genes (GRIN1, GRIN2A, GRIN2B).
These mutations result in intellectual disability, autism, epilepsy, and motor dysfunction.

Purpose of the Study:

To investigate if Grin1 loss-of-function variants cause detectable MRI structural brain changes.
To examine the developmental progression of these structural changes in relation to cognitive impairments.

Main Methods:

Magnetic resonance imaging (MRI) was performed on male Grin1-/- knockdown (GluN1KD) mice at three, six, and twelve weeks of age.
Deformation-based morphometry analyzed neuroanatomical differences.
FluoroJade immunofluorescence identified degenerating neurons.

Main Results:

Volumetric reductions in the substantia nigra and striatum were observed in GluN1KD mice across all ages.
Limbic structure changes appeared at six weeks; white matter deficits began at three weeks and worsened over time.
Degenerating neurons were present in twelve-week-old GluN1KD mice.

Conclusions:

Grin1 loss-of-function mutations lead to early volume reductions in dopaminergic brain structures.
Limbic and white matter changes manifest later and are more severe in mature mice.
Evidence of neuronal degeneration suggests ongoing cell loss due to NMDAR hypofunction.