is proposed as a way to correct mitochondrial heteroplasmy behind ocular and cardiac features of .
Evidence
This is a conceptual therapeutic proposal about prime editing and tissue-specific delivery for mtDNA deletions in Kearns-Sayre syndrome.
Caveat
The abstract provides no patient, animal, cell, delivery, safety, or outcome data showing that prime editing corrects KSS manifestations.
Simplified
(KSS) is a rare mitochondrial disorder defined by a combination of ophthalmoplegia, pigmentary retinopathy, and cardiac conduction defects. KSS arises from mitochondrial DNA (mtDNA) deletions and heteroplasmic imbalance, where there is a variation in levels of normal versus abnormal mtDNA. Current therapies offer symptomatic relief at most; they do not address the primary issue of correcting the genetic mutation. Innovative methods employing (PE), an accurate and RNA-less technology, allow for unique correction of pathogenic mtDNA variants and errors. By fixing the wild type to variant ratio, PE could directly correct ocular- and cardiac-related signs and symptoms in KSS, in two tissue types that are entirely dependent on mitochondrial bioenergetics for their energy needs. Furthermore, the use of tissue-specific delivery methods, such as AAV2 vectors or cardiomyocyte promoters, would further enhance the targeting of the corrective approach to more specifically correct disease processes. This represents a completely innovative approach to genomic correction in the field of mitochondrial medicine, and there is important to translate this research to the clinic.
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