Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
Huntington Disease l: Introduction01:21

Huntington 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,...
Inborn Errors of Metabolism01:20

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...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Genetic Lingo01:11

Genetic Lingo

Overview

You might also read

Related Articles

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

Sort by
Same author

Thrombotic Microangiopathy in Childhood Steroid-Resistant Nephrotic Syndrome: Case Series.

Nephron·2026
Same author

Temporary mycophenolate discontinuation and reintroduction in pediatric kidney transplantation: predictors and long-term outcomes.

Pediatric nephrology (Berlin, Germany)·2026
Same author

Final Results of the ILLUMINATE-A Phase 3 Clinical Trial of Lumasiran for Primary Hyperoxaluria 1.

Clinical journal of the American Society of Nephrology : CJASN·2025
Same author

IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura.

Pediatric blood & cancer·2025
Same author

Natural History of Advanced Primary Hyperoxaluria Type 1: A Retrospective Study.

Kidney medicine·2025
Same author

Emphysematous pyelonephritis and infection-related calculi.

Pediatric nephrology (Berlin, Germany)·2025

Related Experiment Video

Updated: Jun 9, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Mutations in DHDPSL are responsible for primary hyperoxaluria type III.

Ruth Belostotsky1, Eric Seboun, Gregory H Idelson

  • 1Shaare Zedek Medical Center, Jerusalem, Israel.

American Journal of Human Genetics
|August 28, 2010
PubMed
Summary

Researchers identified a third type of Primary Hyperoxaluria (PH III), caused by mutations in the DHDPSL gene. This discovery expands our understanding of PH and offers new avenues for diagnosing and treating this kidney stone-forming disorder.

More Related Videos

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

Related Experiment Videos

Last Updated: Jun 9, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

Area of Science:

  • Genetics
  • Biochemistry
  • Nephrology

Background:

  • Primary Hyperoxaluria (PH) is a genetic disorder causing kidney stones due to excess oxalate.
  • PH types I and II result from deficiencies in AGT and GRHPR enzymes, respectively.
  • An uncharacterized form of PH necessitates identifying novel genetic causes.

Purpose of the Study:

  • To identify the genetic basis of a previously uncharacterized type of Primary Hyperoxaluria (PH III).
  • To investigate mutations in a novel gene responsible for PH in patients negative for PH I and PH II.

Main Methods:

  • High-density SNP microarray analysis was performed on 15 patients from eight families with calcium oxalate nephrolithiasis.
  • A "heterozygosity mapping" strategy was employed to analyze complex genetic data and identify shared mutations.
  • Haplotype reconstruction was used to pinpoint specific mutations within the DHDPSL gene.

Main Results:

  • Mutations in the DHDPSL gene on chromosome 10 were identified as the cause of PH III.
  • Six distinct mutations were found, including missense and deletion mutations, particularly in patients of Ashkenazi Jewish descent.
  • The DHDPSL gene is hypothesized to encode 4-hydroxy-2-oxoglutarate aldolase, involved in hydroxyproline metabolism.

Conclusions:

  • DHDPSL mutations cause a newly identified form of Primary Hyperoxaluria (PH III).
  • This finding expands the known genetic landscape of PH, aiding in diagnosis and potential therapeutic strategies.
  • Understanding the role of DHDPSL in oxalate synthesis opens new research directions for metabolic disorders.