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What is the history of Leber Hereditary Optic Neuropathy?
History of Leber Hereditary Optic Neuropathy: when and how it was discovered, and the milestones in research since, medically reviewed.
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The disease was described originally by the ophthalmologist German Theodore Leber (1840-1917) in 1871.1 Leber described four families in which a considerable number of young men suffering from loss of steep of vision in both eyes forms simultaneously or consecutively. Initially it was thought to be a disease linked to the X chromosome, revealing later that it was, in reality, inheritance of mitochondrial or maternal.2 mutation of a single amino acid causes a change from arginine to histidine is highly conserved in the subunit of the NADH dehydrogenase of respiratory complex I mitochondrial. Later they would find two more mutations that would be responsible for 95% of cases of the disease.
source : https://es.wikipedia.org/wiki/Neuropat%C3%ADa_%C3%B3ptica_hereditaria_de_Leber#Historia
source : https://es.wikipedia.org/wiki/Neuropat%C3%ADa_%C3%B3ptica_hereditaria_de_Leber#Historia
Posted May 20, 2017 by Enrique Guzmán 1370
