The research assessed gene supplementation in mice with a monoallelic mutation with retinitis.
Gene Supplementation in Mice Heterozygous for the D477G RPE65 Variant Implicated in Autosomal Dominant Retinitis Pigmentosa
Go to source). The study is published in the peer-reviewed journal Human Gene Therapy.
What is Retinitis Pigmentosa
Retinitis pigmentosa is an inherited degenerative disorder which affects the retina’s ability to respond to light. It results in progressive loss of vision, eventually leading to blindness. It involves both eyes.
Retinitis Pigmentosa - Causes, Symptoms, Diagnosis, Treatment & Complications
Retinitis pigmentosa is an inherited degenerative disorder which affects retina’s ability to respond to light. It results in progressive loss of vision, eventually leading to blindness.
Retinitis pigmentosa is an inherited degenerative disorder which affects retina’s ability to respond to light. It results in progressive loss of vision, eventually leading to blindness.
‘The new study supports gene supplementation as a treatment for patients with autosomal dominant retinitis pigmentosa.’
Total RPE65 protein levels are decreased in heterozygous D477G KI mice. After treatment, recombinant RPE65 localized specifically to the retinal pigment epithelium and was stable for at least 6 months post-injection. In addition, report the investigators, “rates of recovery of the chromophore 11-cis retinal after bleaching were significantly increased in eyes that received AAV-RPE65, consistent with increased RPE65 isomerase activity.” They add, “It remains of significant interest to determine whether increase RPE65 expression can reduce the disease burden associated with D477G RPE65.”
“While patients with inherited retinal dystrophy due to RPE65 deficiency can benefit from the FDA approved gene therapy, it has been very unclear whether patients with autosomal dominant retinitis pigmentosa due to the D477G RPE65 mutation could be treated in a similar way,” says Editor-in-Chief Terence R. Flotte, MD, Celia and Isaac Haidak Professor of Medical Education and Dean, Provost, and Executive Deputy Chancellor, University of Massachusetts Chan Medical School.
Quiz on Eye Cancer
The eye is composed of several different types of tissues. Thus, cancer of the eye can be of a number of types. See how much you know about eye cancer by taking this quiz.
The eye is composed of several different types of tissues. Thus, cancer of the eye can be of a number of types. See how much you know about eye cancer by taking this quiz.
- Gene Supplementation in Mice Heterozygous for the D477G RPE65 Variant Implicated in Autosomal Dominant Retinitis Pigmentosa - (https://www.liebertpub.com/doi/10.1089/hum.2022.240)
Immune System to Slow Degenerative Retinitis Pigmentosa
Complement system found to play a vital role to slow retinal degeneration in a mouse model of retinitis pigmentosa.
Complement system found to play a vital role to slow retinal degeneration in a mouse model of retinitis pigmentosa.
