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Related Concept Videos

Mutations01:39

Mutations

Overview
Generation of Straight or Branched Actin Filaments01:14

Generation of Straight or Branched Actin Filaments

The straight or branched structure formation of actin filaments is controlled by nucleating proteins such as the formins and Arp2/3 complex. Formin-mediated assembly results in straight filaments, whereas Arp2/3 protein complex-mediated assembly results in branched actin filaments.
Arp2/3 Complex
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Types of Intermediate Filaments

The intermediate filaments are an essential component of the cytoskeleton. Presently six types of intermediate filament have been identified. Type I and II are acidic and basic keratin proteins. Type III is of mesodermal origin and comprises four proteins: vimentin, desmin, glial fibrillary acidic protein (GFAP), and peripherin. Vimentin is commonly found in mesenchymal cells, desmin in muscle cells, GFAP in astrocytes, while peripherin is found in peripheral nervous system neurons (PNS). Type...
Mutations01:35

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.
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Fibril-associated Collagen

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Cystic Fibrosis: Pathogenesis

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Related Experiment Video

Updated: Jul 6, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light

I V Mersiyanova1, A V Perepelov, A V Polyakov

  • 1Research Centre for Medical Genetics, Moscow, Russia. dnalab@orc.ru

American Journal of Human Genetics
|June 8, 2000
PubMed
Summary

Researchers identified a novel mutation in the neurofilament-light gene (NF-L) linked to Charcot-Marie-Tooth type 2 (CMT2) disease. This Gln333Pro alteration in NF-L is suggested as a rare cause of this inherited neuropathy.

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited neuropathy, affecting motor and sensory nerves.
  • Charcot-Marie-Tooth type 2 (CMT2) is the axonal form, with several genetic loci identified but no causative genes yet known.
  • A Russian family presented with CMT2, some members also exhibiting hyperkeratosis, prompting further genetic investigation.

Purpose of the Study:

  • To identify the genetic cause of CMT2 in a large Russian family.
  • To investigate the role of neurofilament genes in the pathogenesis of CMT2.
  • To screen for mutations in the neurofilament-light (NF-L) and neurofilament-medium (NF-M) genes.

Main Methods:

  • Genome-wide screening to pinpoint the disease locus.
  • Microsatellite analysis to identify linkage with genetic markers.
  • Mutation screening of the NF-L and NF-M genes in affected family members.

Main Results:

  • The disease locus was mapped to chromosome 8p21, linked to the NF-L gene.
  • A novel mutation, A998C transversion in the first exon of NF-L, was identified, converting Gln333 to Pro (Gln333Pro).
  • This NF-L mutation was absent in 180 normal chromosomes and not found in other CMT patients.

Conclusions:

  • The Gln333Pro mutation in the NF-L gene is strongly associated with the CMT2 phenotype in this family.
  • This finding suggests that mutations in NF-L can cause CMT2, highlighting the importance of neurofilaments in axonal integrity.
  • Gln333Pro is proposed as a rare, disease-causing mutation for Charcot-Marie-Tooth type 2.