Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Inborn Errors of Metabolism

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Multi-ancestry gene expression models amplify transcriptome-wide association study discovery and validation.

Nature communications·2026

Same author

Increased Arrhythmic Risk in Obesity Is Transduced by Adipose Tissue-Derived Extracellular Vesicles.

JACC. Basic to translational science·2026

Same author

Selective Anti-Giardial Action of Indirubin: Biochemical and Functional Evidence for Inhibition of Triosephosphate Isomerase and Aldose Reductase in <i>Giardia lamblia</i>.

International journal of molecular sciences·2026

Same author

Genetically predicted cytotrophoblast gene expression is associated with birth weight and adult body mass index.

Placenta·2026

Same author

Clinical and Genetic Characteristics of Patients With Novel and Uncertain Significance Variants in CTLA4: A Mexican Cohort.

Clinical genetics·2026

Same author

Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation.

American journal of medical genetics. Part A·2026

Search research articles

Related Experiment Video

Updated: Jun 5, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.

Xin Zhen^1,2, Michael J Betti^1,3, Meltem Ece Kars⁴

¹Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Journal of Clinical Immunology

|December 4, 2024

Summary

A G6PC3 gene mutation common in Mexicans causes severe congenital neutropenia by disrupting glycolysis. This founder mutation leads to a loss-of-function, impacting patient health and aiding diagnosis.

Keywords:

Founder effect G6PC3 deficiency Inborn errors of immunity Metabolic dysfunction Primary immunodeficiency Severe congenital neutropenia

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

Related Experiment Videos

Last Updated: Jun 5, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

Area of Science:

Immunometabolism
Genetics
Hematology

Background:

G6PC3 deficiency causes severe congenital neutropenia type 4 with varied symptoms complicating diagnosis.
The G6PC3 c.210delC variant is prevalent in Mexican populations.

Purpose of the Study:

Investigate the origin and functional impact of the G6PC3 c.210delC variant.
Determine the variant's role in neutropenia and glycolysis inhibition.

Main Methods:

Haplotype and ancestry analysis to trace variant origin.
Protein expression analysis in EBV-B cells.
Extracellular flux assays to assess glycolysis in patient-derived cells.

Main Results:

The c.210delC variant originated from a founder effect in the indigenous Mexican population.
The mutation causes aberrant G6PC3 protein expression and impairs glycolysis.
Patient cells showed reduced glycolysis upon 1,5-anhydroglucitol (1,5-AG) treatment.

Conclusions:

G6PC3 c.210delC is a loss-of-function mutation linked to a Mexican founder effect.
Clinical features in carriers align with other G6PC3 deficiency patients.
An in vitro assay can assess pathogenicity of new G6PC3 variants.