Hematopoietic stem cell gene therapy delivers cell-penetrating frataxin to treat Friedreich's ataxia in preclinical models
This article describes a novel gene and cell therapy approach for Friedreich's ataxia (FRDA), a neurodegenerative disease caused by frataxin deficiency. Researchers developed a fusion protein with secretion and cell-penetrating sequences attached to frataxin, delivered via engineered hematopoietic stem cells using a lentiviral vector. In vitro studies showed successful secretion, cellular penetration, mitochondrial localization, and rescue of biochemical defects and apoptosis in patient cells. In vivo, the approach restored mitochondrial function, improved motor performance, and ameliorated tissue pathology in disease models, supporting a translational strategy for long-term disease stabilization.
Key quotes
We developed a replacement strategy using a fusion protein containing secretion and cell-penetrating sequences fused to the frataxin precursor.
In vitro studies confirmed secretion, cellular penetration, mitochondrial localization, and rescue of biochemical defects and apoptosis in cells from patients with FRDA.
This gene and cell therapy approach enables sustained systemic protein delivery, improving motor performance and tissue pathology.
Engineered hematopoietic stem cells delivering a secreted, tissue-penetrating frataxin restore mitochondrial function and ameliorate disease features in Friedreich's ataxia models.
Supports a translational strategy for long-term disease stabilization.
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