Search research articles

Related Concept Videos

You might also read

Related Articles

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

Sort by

Same author

Follicular lymphoma with EBV-associated transformation, a single institution experience.

Annals of diagnostic pathology·2026

Same author

Tissue-Specific Expression of the EWSR1::FLI1 Fusion Protein Identifies <i>col2a1a</i>-Positive Cells as a Source of Ewing Sarcoma-like Tumors in Zebrafish.

International journal of molecular sciences·2026

Same author

Fueling asthma inflammation via bioenergetic metabolic reprogramming.

Redox biology·2026

Same author

Epidermoid Cyst of the Spleen: A Single Institution Series.

International journal of surgical pathology·2026

Same author

Hog1/p38 and ZAKα drive Shwachman-Diamond syndrome and provide targets to improve cell growth.

bioRxiv : the preprint server for biology·2026

Same author

Dodecanedioic Acid: Alternative Carbon Substrate or Toxic Metabolite?

Biomolecules·2026

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

Search research articles

Related Experiment Video

Updated: May 12, 2025

Analysis of Zebrafish Larvae Skeletal Muscle Integrity with Evans Blue Dye

Analysis of Zebrafish Larvae Skeletal Muscle Integrity with Evans Blue Dye

Published on: November 30, 2015

Tafazzin-Deficient Zebrafish Display Mitochondrial Dysfunction, Neutropenia, and Metabolic Defects Without Myopathy.

Usua Oyarbide¹, Rebecca A Anderson¹, Igor Radzikh²

¹Departments of Pediatrics and Cancer Biology, Lerner Research Institute and Cleveland Clinic, Cleveland, OH.

Research Square

|May 2, 2025

Summary

Barth syndrome, caused by TAFAZZIN mutations, leads to metabolic defects in zebrafish. Despite mitochondrial dysfunction, these zebrafish showed normal development and lifespan, suggesting potential compensatory pathways or human-specific vulnerabilities.

More Related Videos

Analysis of Embryonic and Larval Zebrafish Skeletal Myofibers from Dissociated Preparations

Analysis of Embryonic and Larval Zebrafish Skeletal Myofibers from Dissociated Preparations

Published on: November 13, 2013

Metabolic Profile Analysis of Zebrafish Embryos

Published on: January 14, 2013

Related Experiment Videos

Last Updated: May 12, 2025

Analysis of Zebrafish Larvae Skeletal Muscle Integrity with Evans Blue Dye

Analysis of Zebrafish Larvae Skeletal Muscle Integrity with Evans Blue Dye

Published on: November 30, 2015

Analysis of Embryonic and Larval Zebrafish Skeletal Myofibers from Dissociated Preparations

Analysis of Embryonic and Larval Zebrafish Skeletal Myofibers from Dissociated Preparations

Published on: November 13, 2013

Metabolic Profile Analysis of Zebrafish Embryos

Published on: January 14, 2013

Area of Science:

Biochemistry
Genetics
Molecular Biology

Background:

Barth syndrome is an X-linked disorder caused by mutations in the TAFAZZIN gene, affecting mitochondrial function.
It is characterized by cardiomyopathy, skeletal myopathy, and neutropenia, with no effective therapies currently available.
The precise mechanisms underlying myopathies and neutropenia in Barth syndrome remain unclear.

Purpose of the Study:

To investigate the physiological consequences of TAFAZZIN loss-of-function in a zebrafish model.
To explore potential compensatory mechanisms and understand the differential impact of TAFAZZIN deficiency in humans versus zebrafish.

Main Methods:

Generation of tafazzin-deficient zebrafish models.
Analysis of metabolic profiles, including cardiolipin levels, 3-methylglutaconic acid, ATP, lactic acid, and hypoglycemia.
Assessment of cardiac and skeletal muscle function, neutrophil counts, and inflammatory markers (il6).

Main Results:

Zebrafish lacking tafazzin exhibited neutropenia and significant metabolic disturbances, including altered cardiolipin profiles and impaired energy production.
Despite these defects, zebrafish did not develop cardiac or skeletal myopathies and maintained normal lifespan and fertility.
Adult tafazzin-mutant zebrafish showed increased neutrophil numbers and signs of inflammation, contrasting with the typical presentation of Barth syndrome.

Conclusions:

Zebrafish models display key metabolic and mitochondrial defects associated with Barth syndrome but lack the severe myopathies observed in humans.
These findings suggest that zebrafish may possess robust compensatory pathways for Tafazzin loss.
The study highlights a potential unique vulnerability of humans to TAFAZZIN deficiency, warranting further investigation into species-specific differences.