In:
Acta Ophthalmologica, Wiley, Vol. 94, No. S256 ( 2016-10)
Abstract:
Inherited Optic Neuropathies are blinding diseases related to mitochondrial dysfunctions jeopardizing retinal ganglion cell (RGC) survival. There are two main forms: the Leber Hereditary Optic Neuropathy (LHON) related to mutations in the mitochondrial genome, and the Kjer dominant optic atrophy (DOA) related to mutations in nuclear genes. Since the initial discovery of the OPA1 gene in 2000 as the major gene causing DOA, the use of WES and re‐sequencing chips disclosed many novel genes responsible for DOA. Interestingly, most of them are involved in mitochondrial dynamics, suggesting that the equilibrium between fission and fusion is crucial for RGC physiology. In this respect, using fluorescence and electron microscopy, we showed that the structure of mitochondria is drastically different according to the myelination status of RGC axons, possibly correlating anterograde and retrograde mitochondrial transport to mitochondrial dynamics. Further metabolomics analysis of an Opa1 mouse model identified specific signatures in the plasma and optic nerve, emphasizing the consequence of mitochondrial shape on metabolic pathways, and revealing biomarkers of the disease.
Type of Medium:
Online Resource
ISSN:
1755-375X
,
1755-3768
DOI:
10.1111/aos.2016.94.issue-S256
DOI:
10.1111/j.1755-3768.2016.0117
Language:
English
Publisher:
Wiley
Publication Date:
2016
detail.hit.zdb_id:
2466981-7
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