PYC-001
Autosomal Dominant Optic Atrophy (ADOA)
ADOA is a progressive and blinding eye disease
Degenerative sight of an ADOA patient
Patient is usually diagnosed in early childhood
Patient first loses central vision and then peripheral vision
Patient is often diagnosed as legally blind
Unaffected individual |
ADOA PATIENT |
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DNA |
ADOA patients have a mutation in one copy of the OPA1 gene |
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RNA |
The mutation leads to an unstable RNA message that is rapidly degraded |
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OPA1
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This leads to cells in the retina having half as much OPA1 protein as they require to function normally |
100% |
~50% |
Unaffected individual
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DNA
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RNA
-
Protein
Functional OPA1 expression = 100%
2 ‘healthy’ copies of OPA1 results in functional OPA1 protein expression
ADOA patient
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DNA
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RNA
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Protein
Functional OPA1 expression = ~50-70%
ADOA patients have a mutation in one copy of the OPA1 gene, leading to retinal cells having half as much OPA1 protein required for normal function
ADOA patient treated with PYC-001
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DNA
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RNA
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Protein
Restoration of OPA1 expression towards 100%
PYC-001 increases expression of the remaining healthy copy of OPA1 to compensate for the protein insufficiency
Patient Trials
PYC is currently conducting patient trials. Please contact us for more information.
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