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Journal of Clinical Genetics and Genomics

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The function of mitochondria in autosomal-recessive optic atrophy

Author(s): Brooklyn Warren*

A kind of optic neuropathy known as otic atrophy with autosomal inheritance is characterised by a progressive and permanent loss of vision. This is sometimes accompanied by other extra-ocular symptoms that are often neurological. The specific degeneration of the retinal ganglion cells, which make up the optic nerve, is what causes the loss of vision. Despite the genetic heterogeneity of autosomal OA, all of the causal genes that have been discovered so far seem to be involved in mitochondrial structure and function. RGCs are particularly susceptible to mitochondrial aberration, but the reason for this is unknown. There are presently no approved treatments for this condition, despite the fact that it is rather common. There is still a definite need for more research to determine the underlying mechanisms and create treatments for this disorder because we still don't know how abnormal mitochondrial function results in RGC mortality. The genes known to induce autosomal OA and themitochondrial dysfunction brought on by pathogenic mutations are summarised in this article. We also talk about the applicability of existing in vivo models for autosomal OA in terms of both developing treatments and deepening our understanding of the pathogenesis of autosomal OA


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Citations : 24

Journal of Clinical Genetics and Genomics received 24 citations as per Google Scholar report

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