Related Experiment Video
Updated: May 31, 2026
07:43
Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations
Ki W Chung1, Young S Hyun, Hae J Lee
1Department of Biological Science and Research Center for Biotechnology, Kongju National University, Gongju, Chungnam.
Journal of the Peripheral Nervous System : JPNS
|June 23, 2011
Summary
Two recessive intermediate Charcot-Marie-Tooth (RI-CMT) patients with novel ganglioside-induced differentiation-associated protein 1 (GDAP1) gene mutations showed mixed neuropathies. Leg MRI fatty substitution patterns varied based on mutation location within the GDAP1 gene.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Charcot-Marie-Tooth (CMT) disease is a group of inherited peripheral neuropathies.
- Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene are known to cause various CMT phenotypes.
- Recessive intermediate Charcot-Marie-Tooth (RI-CMT) represents a specific subtype requiring further genetic elucidation.
Observation:
- Two patients diagnosed with RI-CMT were identified.
- These patients carried distinct missense mutations in the GDAP1 gene.
- One patient had a homozygous His256Arg mutation, while the other had compound heterozygous Pro111His and Val219Gly mutations.
Findings:
- Histopathological analysis revealed mixed demyelinating and axonal neuropathies in both patients.
- Nerve conduction velocities were consistent with an intermediate CMT phenotype.
- Magnetic resonance imaging (MRI) demonstrated distinct patterns of fatty substitution in the leg muscles, correlating with different GDAP1 mutation sites.
Implications:
- These findings expand the spectrum of GDAP1 mutations associated with RI-CMT.
- The study highlights genotype-phenotype correlations, suggesting mutation location influences disease manifestation.
- Understanding these variations aids in diagnosing and potentially managing GDAP1-related neuropathies.
More Related Videos
Related Concept Videos
01:43Incomplete Dominance
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
01:35Pedigree Analysis
Overview
01:27Glucose Transporters
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
01:11Genetic Lingo
Overview