Targeting the liver to treat the eye

Article Medicine, Research & Experimental

Liver-directed gene therapy for ornithine aminotransferase deficiency

Iolanda Boffa et al.

Summary: GACR is a chorioretinal degeneration caused by pathogenic variants in the gene encoding ornithine aminotransferase (OAT). The current therapies are unsatisfactory and this study investigates the efficacy of liver-directed AAV-mediated gene therapy using an intravenously injected AAV8 vector expressing OAT. The results show that this gene therapy effectively reduces ornithine concentrations and improves retinal function and structure in mouse models of OAT deficiency.

EMBO MOLECULAR MEDICINE (2023)

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Article Biotechnology & Applied Microbiology

Liver Gene Therapy

Amit C. C. Nathwani et al.

Summary: Gene therapy is an exciting therapeutic concept offering hope for curing a variety of genetic and acquired disorders, with the liver as a key target due to its essential biological functions. Recent advances in liver-targeted gene therapy have shown promising clinical efficacy, with approval of the first gene therapy for hemophilia A in Europe and others in final stages of approval, heralding a potential new era of curative molecular medicine.

HUMAN GENE THERAPY (2022)

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Article Biochemistry & Molecular Biology

Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects

Riccardo Montioli et al.

Summary: Gyrate Atrophy is a rare genetic disorder caused by mutations in the OAT gene, leading to progressive retinal degeneration and blindness. Current treatment options include an arginine-restricted diet to limit ornithine load or supplementation with Vitamin B6.

BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS (2021)

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Article Biotechnology & Applied Microbiology