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Iron dysregulation in mice engineered with a mutation associated with stuttering
Marissa Millwater1, Camryn Bragg1, Devin Bishop1
1Neuron-Glia Signaling and Circuits Unit, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, 20892 MD, USA.
Biorxiv : the Preprint Server for Biology
|August 6, 2025
Summary
A mutation in the GNPTAB gene linked to stuttering causes iron buildup in mouse brains. Iron chelation therapy improved speech symptoms, suggesting a link between iron homeostasis and stuttering.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Stuttering is a neurodevelopmental disorder affecting speech fluency.
- Specific GNPTAB gene mutations are linked to stuttering, but the mechanism is unclear.
- GNPTAB is involved in lysosomal enzyme targeting.
Purpose of the Study:
- To investigate the link between GNPTAB mutations and the stuttering phenotype.
- To explore the role of iron deposition in the basal ganglia of Gnptab-mutant mice.
- To assess the efficacy of iron chelation therapy on stuttering symptoms.
Main Methods:
- Studied mice engineered with a human stuttering-associated Gnptab mutation.
- Utilized Perls' stain and astrocyte-specific markers to analyze iron deposition.
- Administered iron chelation therapy to assess symptom improvement.
Main Results:
- Gnptab-mutant mice exhibited increased iron deposition in the basal ganglia.
- Iron deposits were localized predominantly in astrocytes.
- Iron chelation therapy ameliorated vocalization symptoms in mutant mice.
Conclusions:
- A Gnptab mutation is associated with altered iron homeostasis in astrocytes.
- Iron dysregulation in astrocytes may contribute to the stuttering phenotype.
- Targeting iron deposition presents a potential therapeutic avenue for stuttering.
