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

Pleiotropy

Pleiotropy

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,...

Mutations

Mutations

Translation

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

Mutations

Mutations

Mutations

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.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Translation

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

You might also read

Related Articles

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

Sort by

Same author

Early Metabolic Alterations Are Associated with Intraventricular Hemorrhage and Its Complications in Very Preterm Infants.

Neonatology·2026

Same author

Echocardiography Report Translation and Inference Based on Parameter-Efficient Fine-Tuning of LLaMA Models.

Diagnostics (Basel, Switzerland)·2026

Same author

Immunological Manifestations in GALE Deficiency: Extending the Spectrum Beyond Thrombocytopenia and Galactosemia.

Journal of clinical immunology·2026

Same author

Novel EBU Catheter-Assisted Parallel Wire Technique for Difficult Aortic Valve Crossing (EUPASS).

JACC. Asia·2026

Same author

2026 Consensus and review of Lipoprotein(a) from Taiwan Society of Lipid and Atherosclerosis: Molecular pathogenesis, epidemiology, clinical implications, and advances in diagnostic strategies.

Journal of the Formosan Medical Association = Taiwan yi zhi·2026

Same author

Poking the Little Brother.

Journal of palliative medicine·2026

Search research articles

Related Experiment Video

Updated: Jul 7, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Functional consequences of PRODH missense mutations.

Hans-Ulrich Bender¹, Shlomo Almashanu, Gary Steel

¹Howard Hughes Medical Institute, and Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

American Journal of Human Genetics

|January 22, 2005

Summary

Genetic mutations in PRODH reduce proline oxidase activity, potentially increasing schizophrenia risk. Severe reductions in enzyme function correlate with hyperprolinemia and are linked to schizophrenia susceptibility.

More Related Videos

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

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

Published on: August 15, 2019

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Related Experiment Videos

Last Updated: Jul 7, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

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

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

Published on: August 15, 2019

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Area of Science:

Biochemistry
Genetics
Neuroscience

Background:

The PRODH gene encodes proline oxidase (POX), a mitochondrial enzyme crucial for proline degradation.
Mutations in PRODH are linked to hyperprolinemia and schizophrenia, but their functional impact remains largely untested.
PRODH is located in a region deleted in velocardiofacial syndrome/DiGeorge syndrome (VCFS/DGS).

Purpose of the Study:

To directly assess the functional consequences of PRODH missense mutations on POX activity.
To investigate the correlation between PRODH mutation severity, proline levels, and schizophrenia risk.

Main Methods:

In vitro analysis of proline oxidase (POX) activity for 16 identified PRODH missense mutations.
Correlation of mutation-induced POX activity reduction with plasma proline levels and known schizophrenia-associated alleles.

Main Results:

15 out of 16 PRODH missense mutations altered POX activity, with 11 causing significant reductions (mild to severe).
Severe POX activity reduction and hyperprolinemia were observed for alleles L441P and R453C.
Three alleles (V427M, L441P, R453C), associated with schizophrenia, caused severe POX dysfunction and hyperprolinemia.

Conclusions:

Missense mutations in PRODH significantly impact POX enzyme activity, leading to varying degrees of hyperprolinemia.
Reduced POX function due to PRODH mutations is a potential risk factor for schizophrenia.
The high polymorphism of PRODH supports its role in complex neurological disorders.