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Patient-derived TWNK variants recapitulate multisystem Perrault syndrome pathology in a mouse model
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DOI：10.1016/j.mito.2026.102137.png)
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Abstract
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• We established the first patient-specific, compound heterozygous TWNK mutant mouse model of Perrault syndrome (PS). • This model recapitulates key clinical features of PS: hearing loss, motor deficits, and peripheral neuropathy. • Mutant mice show mitochondrial dysfunction with reduced mtDNA copy number and ATP levels. • This mice model enables future blinded therapeutic studies under controlled conditions.
Keywords:
Mitochondrial dysfunction
Mouse model
mtDNA
Perrault syndrome
Sensorineural hearing loss
TWNK
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