The Progress of Gene Therapy for Leber's Optic Hereditary Neuropathy

Yong Zhang, Zhen Tian, Jiajia Yuan, Chang Liu, Hong Li Liu, Si Qi Ma, Bin Li, Yong Zhang, Zhen Tian, Jiajia Yuan, Chang Liu, Hong Li Liu, Si Qi Ma, Bin Li

Abstract

Introduction: Leber's Optic Hereditary Neuropathy (LHON) is a common cause of teenaged blindness in both eyes for which there is currently no effective treatment. In 1871, the German ophthalmologist Theodor Leber was the first to describe the clinical characteristics of his namesake disease, and through unremitting efforts over the past 100 years, researchers have continued to increase their understanding of LHON. In recent years, using gene therapy, several groups have obtained breakthroughs in the treatment of the disease.

Conclusion: In this article, we will review the challenging journey that researchers faced towards our current understanding of LHON, and describe the transition of gene therapy research for LHON from the bench to bedside.

Keywords: Allotopic expression technology; Gene therapy; Leber's optic hereditary neuropathy; MT-ND4; Mitochondrial disease; Translational medicine.

Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Figures

Fig. (1)
Fig. (1)
Fundus color images during the acute stage of LHON. (A, B) Swelling of the nerve fiber layer around the optic disc, circumpapillary telangiectatic microangiopathy, and presence of the optic nerve boundary can be observed. (For interpretation of the references to color in this figure legend, the reader is referred to the web version of this paper.)
Fig. (2)
Fig. (2)
Visual field presentation during the acute stage of LHON. Note deficiency of the central visual field.
Fig. (3)
Fig. (3)
Allotopic expression of AAV2-ND4 effector mechanism. AAV2 transports normal (wild type) MT-ND4 into nodular cells, which is translated into ND4 in the cytoplasm. Under the guidance of a MTS, ND4 is imported into mitochondria to carry out its biological functions.

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