Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy
| Autor: | Minu Jenifer Michael, Agaath Hedina Manickam, Sivasamy Ramasamy |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Mitochondrial DNA congenital hereditary and neonatal diseases and abnormalities genetic structures Genetic counseling Disease Review Article Optic Atrophy Hereditary Leber Mitochondrion DNA Mitochondrial Optic neuropathy 03 medical and health sciences 0302 clinical medicine lcsh:Ophthalmology Leber's hereditary optic neuropathy medicine Idebenone Humans Genetics business.industry nutritional and metabolic diseases NADH Dehydrogenase Genetic Therapy medicine.disease eye diseases mitochondria Ophthalmology ND4 Oxidative Stress 030104 developmental biology ND6 lcsh:RE1-994 ND1 030221 ophthalmology & optometry Optic nerve business medicine.drug |
| Zdroj: | Indian Journal of Ophthalmology Indian Journal of Ophthalmology, Vol 65, Iss 11, Pp 1087-1092 (2017) |
| ISSN: | 1998-3689 0301-4738 |
| Popis: | Leber's hereditary optic neuropathy (LHON) is a common inherited mitochondrial disorder that is characterized by the degeneration of the optic nerves, leading to vision loss. The major mutations in the mitochondrial genes ND1, ND4, and ND6 of LHON subjects are found to increase the oxidative stress experienced by the optic nerve cell, thereby leading to nerve cell damage. Accurate treatments are not available and drugs that are commercially available like Idebenone, EPI-743, and Bendavia with their antioxidant role help in reducing the oxidative stress experienced by the cell thereby preventing the progression of the disease. Genetic counseling plays an effective role in making the family members aware of the inheritance pattern of the disease. Gene therapy is an alternative for curing the disease but is still under study. This review focuses on the role of mitochondrial genes in causing LHON and therapeutics available for treating the disease. A systematic search has been adopted in various databases using the keywords “LHON,” “mitochondria,” “ND1,” “ND4,” “ND6,” and “therapy” and the following review on mitochondrial genetics and therapeutics of LHON has been developed with obtained articles from 1988 to 2017. |
| Databáze: | OpenAIRE |
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