Mitochondrial Transfer of the Mutant Human ND6T14484C Gene Causes Visual Loss and Optic Neuropathy.

ABSTRACT:

Purpose

To evaluate the long-term effects of mitochondrial gene transfer of mutant human NADH ubiquinone oxidoreductase subunit VI (hND6T14484C) in the mouse eye.

Methods

Adult mice were injected intravitreally with mitochondrial-targeted adeno-associated virus carrying either hND6T14484C or mitochondrial encoded mCherry. The delivery and expression of the interest gene were detected by polymerase chain reaction (PCR), quantitative PCR (qPCR), and immunostaining. The pathologic effects of the mutant gene in live mice were assessed with RNA-seq, serial spectral domain optical coherence tomography (SD-OCT), and pattern electroretinogram (PERG).

Results

Delivered hND6 was found 30-fold greater than endogenous mouse ND6 in microdissected

SUBMITTER: Yu H 

PROVIDER: S-EPMC7545076 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature