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Related Experiment Video

Updated: Feb 23, 2026

Experimental Approaches for Biochemical Analysis of Glial Fibrillary Acidic Protein and Its Disease-associated Variants
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Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model.

So-Hyun Lee1,2, Tai-Seung Nam3, Kun-Hee Kim4

  • 1Department of Biomedical Sciences, Chonnam National University Medical School, Gwangju, 501-759, Republic of Korea.

BMC Neurology
|September 9, 2017
PubMed
Summary

A new zebrafish model helps identify disease-causing glial fibrillary acidic protein (GFAP) mutations in Alexander disease (AxD). This assay system can determine if GFAP mutations lead to protein aggregation, aiding in diagnosing this CNS astrogliopathy.

Keywords:
Alexander diseaseAstrocyteGFAPGlial fibrillary acidic proteinLeukodystrophyRosenthal fibersZebrafish

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Area of Science:

  • Neuroscience
  • Genetics
  • Biochemistry

Background:

  • Alexander disease (AxD) is a CNS astrogliopathy linked to glial fibrillary acidic protein (GFAP) gene mutations.
  • Pathological hallmarks include Rosenthal fibers, complicating diagnosis due to tissue scarcity and overlap with other conditions.

Observation:

  • A novel GFAP mutation (p.Asp128Asn) was identified in a patient with progressive gait disturbance.
  • Zebrafish embryos were utilized to model GFAP aggregation potential.

Findings:

  • Previously reported and the novel p.Asp128Asn GFAP mutations induced significantly more GFAP aggregates in zebrafish embryos compared to wild-type GFAP.
  • The p.Asp128Asn mutation is strongly suggested to be disease-causing.

Implications:

  • The developed zebrafish assay system provides a valuable in vivo tool for assessing the pathogenicity of GFAP mutations.
  • This assay can assist clinicians in diagnosing Alexander disease by confirming if identified GFAP mutations lead to protein aggregation.