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ELP1 Gene Augmentation Restores Visual Function in a Mouse Model of Familial Dysautonomia
Biorxiv : the Preprint Server for Biology
|January 16, 2026
Summary
Gene therapy using AAV2.U1a.hELP1 successfully restored Elongator acetyltransferase complex subunit 1 (ELP1) protein levels, rescuing retinal structure and function in a familial dysautonomia (FD) mouse model. This offers a promising treatment for FD-associated optic neuropathy.
Area of Science:
- Neuroscience
- Genetics
- Ophthalmology
Background:
- Familial dysautonomia (FD) causes progressive optic neuropathy and vision loss.
- Current treatments for FD-associated optic neuropathy are lacking.
- Elongator acetyltransferase complex subunit 1 (ELP1) is implicated in FD pathogenesis.
Purpose of the Study:
- To analyze visual function in a retina-specific FD mouse model.
- To evaluate ELP1 gene supplementation as a therapeutic strategy for FD-associated optic neuropathy.
Main Methods:
- Comprehensive visual function analysis using electroretinography (ERG) and optomotor response (OMR) in FD mice.
- Intravitreal delivery of an adeno-associated virus (AAV) vector (AAV2.U1a.hELP1) for gene supplementation.
- Longitudinal retinal assessments including nerve fiber layer (RNFL) thickness.
Main Results:
- FD mice exhibited RNFL thinning and impaired visual function (VEPs, pERGs, phNRs, visual acuity, contrast sensitivity).
- ffERG revealed RGC and bipolar cell dysfunction in FD mice.
- AAV2.U1a.hELP1 delivery restored ELP1 expression, significantly rescuing retinal structure and function.
Conclusions:
- ELP1 gene supplementation effectively rescues RGC function in an FD mouse model.
- AAV2.U1a.hELP1 is a promising therapeutic approach for FD-associated optic neuropathy.
- Optimized AAV2.hELP1 dose (5.4×10^8 vg) shows significant functional and structural improvement.
