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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...

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...

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).

Autonomic Nervous System

Autonomic Nervous System

The autonomic nervous system (ANS) is a critical component of the peripheral nervous system, primarily responsible for regulating involuntary bodily functions and maintaining homeostasis. It functions in tandem with the central nervous system (CNS) to seamlessly coordinate various physiological processes without the need for conscious control.
The ANS comprises two main divisions: the sympathetic and parasympathetic divisions. These divisions function antagonistically to maintain a dynamic...

Autonomic Nervous System: Overview

Autonomic Nervous System: Overview

The human nervous system is divided into two main parts: the central nervous system (CNS) and the peripheral nervous system (PNS). The CNS is composed of the brain and spinal cord, while the PNS contains nerve cells, clusters of nerve cells, and the sensory receptors that are outside the CNS. The PNS has two types of nerve cells: sensory (afferent) and motor (efferent). Sensory cells send signals to the CNS from receptors, and motor cells carry signals from the CNS to organs, muscles, and...

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Related Experiment Video

Updated: Feb 3, 2026

Quantitative Autonomic Testing

Quantitative Autonomic Testing

Published on: July 19, 2011

IGHMBP2 mutation associated with organ-specific autonomic dysfunction.

Pedro J Tomaselli¹, Alejandro Horga², Alexander M Rossor²

¹MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3AR, UK; Department of Neuromuscular Disorders, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP 14640-900, Brazil.

Neuromuscular Disorders : NMD

|November 3, 2018

Summary

This summary is machine-generated.

IGHMBP2 gene mutations cause severe neuromuscular disorders. This case highlights a novel mutation leading to progressive muscle weakness, respiratory failure, and gastrointestinal autonomic dysfunction.

Keywords:

CMT IGHMBP2 gene Next generation sequencing SMARD1 Target multigene panel

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Published on: September 25, 2015

Area of Science:

Genetics and Molecular Biology
Neurology
Rare Diseases

Background:

Biallelic mutations in the IGHMBP2 gene are linked to distinct neuromuscular disorders, including spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth disease type 2S (CMT2S).
Understanding the full spectrum of IGHMBP2-related phenotypes is crucial for accurate diagnosis and management.

Observation:

A patient presented with infantile-onset progressive muscle weakness and wasting in all limbs.
Respiratory involvement emerged at age 9, necessitating continuous non-invasive ventilation, alongside severe gastrointestinal autonomic dysfunction.
Late-stage neurophysiological studies showed absent sensory/motor responses and severe denervation in proximal upper limb muscles.

Findings:

Targeted sequencing identified a novel homozygous missense variant (c.1325A>G; p.Tyr442Cys) in the IGHMBP2 gene.
Sanger sequencing and co-segregation analysis confirmed the variant's novelty and parental carrier status.

Implications:

This case expands the known clinical spectrum of IGHMBP2-related disorders.
It underscores the potential for severe peripheral neuropathy and significant gastrointestinal autonomic dysfunction, possibly requiring parenteral nutrition, in patients with IGHMBP2 mutations.