Related Experiment Video

Updated: Feb 15, 2026

Author Spotlight: Identifying Compensatory Pathways in Malaria Parasites Containing Hypomorphic Allele of Essential Protein Kinases
09:13

Author Spotlight: Identifying Compensatory Pathways in Malaria Parasites Containing Hypomorphic Allele of Essential Protein Kinases

Published on: November 22, 2024

1.8K

Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Jean-Louis Guéant1, Céline Chéry2, Abderrahim Oussalah2

  • 1INSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), 54505, Nancy, France. jean-louis.gueant@univ-lorraine.fr.

Nature Communications
|February 4, 2018
PubMed

Insights

A PRDX1 mutant allele causes a secondary epimutation in the MMACHC gene, impacting cobalamin C (cblC) disease patients. This genetic finding clarifies a key mechanism in a specific metabolic disorder.

Area of Science:

  • Genetics
  • Biochemistry
  • Molecular Biology

Background:

  • Cobalamin C (cblC) disease is a common inborn error of metabolism.
  • Epimutations, or changes in gene expression without altering DNA sequence, can cause disease.
  • The MMACHC gene is crucial for processing vitamin B12.

Purpose of the Study:

  • To investigate the genetic basis of a secondary epimutation in MMACHC.
  • To identify the causative genetic factor leading to altered MMACHC gene expression in cblC patients.

Main Methods:

  • Genetic sequencing of patients with cblC disease.
  • Analysis of PRDX1 gene variants.
  • Epigenetic analysis to confirm secondary epimutation.

Main Results:

  • A specific mutant allele in the PRDX1 gene was identified.
  • This PRDX1 mutation was shown to cause a secondary epimutation in the MMACHC gene.
  • The findings link PRDX1 genotype to MMACHC epimutation status in cblC patients.

Conclusions:

  • A PRDX1 mutant allele is responsible for a secondary MMACHC epimutation in cblC patients.
  • This discovery provides a molecular explanation for a subset of cblC cases.
  • Understanding this genetic link may inform future diagnostic and therapeutic strategies.

More Related Videos

Binocular Dynamic Visual Acuity in Eyeglass-Corrected Myopic Patients07:06

Binocular Dynamic Visual Acuity in Eyeglass-Corrected Myopic Patients

Published on: March 29, 2022

3.3K
Single Cell Analysis Of Transcriptionally Active Alleles By Single Molecule FISH06:26

Single Cell Analysis Of Transcriptionally Active Alleles By Single Molecule FISH

Published on: September 20, 2020

3.6K

Related Concept Videos

Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
38.2K
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
18.2K
Distance Corrections01:15

Distance Corrections

To achieve precise distance measurements, especially in surveying and construction, certain corrections must be applied to account for potential sources of error like the standardization errors, temperature variations, and slope adjustments.Standardization error emerges when measurement equipment undergoes changes, such as wear, repairs, or weather impacts. To address this, surveyors compare the equipment’s readings to a standard. This process identifies any deviation that might lead to...
303
Power Factor Correction01:20

Power Factor Correction

The power transmission to a factory involves the transfer of apparent power, a combination of active and reactive power. The power factor measures how effectively electrical power is converted into useful work output. The ratio of the real power (KW) that does the work to the apparent power (KVA) supplied to the circuit.
562
Secondary Active Transport01:55

Secondary Active Transport

One example of how cells use the energy contained in electrochemical gradients is demonstrated by glucose transport into cells. The ion vital to this process is sodium (Na+), which is typically present in higher concentrations extracellularly than in the cytosol. Such a concentration difference is due, in part, to the action of an enzyme “pump” embedded in the cellular membrane that actively expels Na+ from a cell. Importantly, as this pump contributes to the high concentration of...
138.3K
Secondary Healthcare System01:11

Secondary Healthcare System

Secondary healthcare is offered by a specialist, generally in hospitals or clinics for patients referred by primary healthcare providers. It occurs when a person has an illness or injury that requires specific medical care. Secondary care is often referred to as acute care. Secondary care can range from uncomplicated care to repair a minor laceration or treat a strep throat infection to more complicated emergent care, such as treating a head injury sustained in an automobile accident. Whatever...
2.1K