Ssbp1 as a new target, and biomarker for predicting risk of ocular disease related to mtdna maintenance such as opic neuropathy or foveopathy

Inventors report heterozygous mutations in mitochondrial single-stranded DNA-binding protein SSBP1 in multiple unrelated families with non-syndromic dominant optic atrophy, associated in half of the cases by a striking occurrence of a foveopathy. SSBP1 is a key protein for the mtDNA replication machinery. Inventors have identified two mutations in SSBP1 in families with dominant optic atrophy and shown that SSBP1 mutation affects mtDNA replication. Patient fibroblasts displayed unstable formation of SSBP1 dimer/tetramer affecting mtDNA replication leading to a decrease of mtDNA copy-number. They provide evidences that SSBP1 deficiency in human results in a novel mtDNA syndrome resulting in an isolated visual defect. The present invention relates to a method for predicting the risk of having or developing ocular disease related to mtDNA maintenance by measuring at least one mutation in SSBP1. The invention relates also to treat ocular disease related to mtDNA maintenance by administering an inhibitor of SSBP1 gene expression or a vector which comprises a nucleic acid molecule encoding for SSBP1. Scientific publication(s): J Clin Invest, 2020 Jan 2, Piro-Mégy C. et al., Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy, doi: 10.1172/JCI128513

Keywords: ELISA, PCR, RT-PCR, Sequencing, Genomics, Immunoassay, Transcriptomics, Diagnostic, Risk Prediction in mtDNA maintenance related ocular disease, optic neuropathy, Autosomal dominant optic atrophy (ADOA), Foveopathy, Leber's hereditary optic neuropathy (LHON), glaucoma, retinal macular dystrophy, optic nerve dysfunction, or progressive external ophthalmoplegia (PEO), ptosis
Patent Application number: EP19305764.3
J Clin Invest. 2020 Jan 2;130(1):143-156. doi: 10.1172/JCI128513.



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Inserm Transfert
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Patent filling date: 2019-06-14
Rare disease: Yes

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