Mitochondrial Gene Mutations Behind Leber’s Hereditary Optic Neuropathy
The primary cause of Leber’s hereditary optic neuropathy is mtDNA mutations that disrupt normal mitochondrial function. These mutations specifically affect subunits of complex I in the electron transport chain, reducing ATP production and increasing harmful oxidative stress in cells that require high energy. This dysfunction leads to damage and death of retinal ganglion cells, causing vision loss. Because mitochondria are inherited exclusively from the mother, LHON follows a maternal inheritance pattern. Visit us: http://idebenone.org
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