METHOD AND KIT FOR PROGNOSIS OF OPA1 GENE INDUCED DISEASES, E.G. KJERS OPTIC ATROPHY

摘要

Providing Nuclear factor (erythroid-derived 2)-like 2 (NRF2)-activated genes products, e.g. SOD1 and CAT, in their use in the prognosis of an OPA1 gene- or OPA1 gene product-deficit-induced disease, or related complications, e.g. optic atrophy and optic neuropathy, in a biological sample selected from fibroblasts, epithelial cells, blood samples or a mixture thereof, of a patient affected or suspected to be affected by the disease.

主权项

1. A method for the in vitro prognosis of an OPA1 gene- or OPA1 gene product-deficit-induced disease, and/or related complications, comprising detecting in a biological sample selected from fibroblasts, epithelial cells, blood samples or a mixture thereof, of a patient affected or suspected to be affected by said disease, expression and/or activity of Nuclear Factor (erythroid-derived 2)-like 2 (NRF2)-activated genes products in particular wherein said NRF2-activated genes products are selected from the group consisting in NRF2, SOD1, SOD2, catalase, GSTP1, NQO1, Glutathione Reductase, Peroxiredoxin 1, Hemeoxigenase 1, Thioredoxin reductase 1, Glutamate Cystein Ligase.