LEBER HEREDITARY NEUROPATHY PATHOPHYSIOLOGY Three mitochondria mutations contribute to Leber hereditary neuropathy disease. The three mitochondria mutations G11778A, G3460A, T14484C occurs inside of complex 1 Nicotinamide Adenine Dinucleotide ubiquinone oxidoreductase (Chinnery et al., 2001).
Complex 1 NADH: ubiquinone oxidoreductase is mainly for the transferring of electrons within the mitochondrial in the respiratory chain (Garmier et.al, 2008). When the respiratory chain is not functioning properly, the glutamate transport becomes impaired and increases the oxidative transport species production (Yu-Wai-Man et al., 2013). Mitochondria mutations interrupt the respiratory chain that impair the cell retinal layer, which cause bilateral and central vision loss (Chinnery et al., 2001). Normally in the respiratory chain, NADH ubiquinone oxidoreductase catalyzes the transfer of two electrons across a membrane, which creates a charge that help with the formation of ATP (Garmier et.al, 2008). However, when the respiratory chain is not functioning properly, ATP is not able to be formed. For example, respiratory chain dysfunction in the eye causes the degeneration of the retinal ganglion and the optic nerve axon cell layer (Howell, 1997). Furthermore, degeneration of the retinal layer causes retinal detachment that leads to permanent vision loss (Yu-Wai-Man et al., 2013). …show more content…
For instance, a mutation called G11778A replaces arginine for histidine, which causes the formation of reactive oxygens. Ultimately, the formation of reactive oxygens causes a build up of proteins in the eyes that leads to blurry and permanent vision loss (Chinnery et al., 2001). Another example of a mutation that affects the normal functioning of NADH ubiquinone reductase is G3460A. The G3460A mutation substitutes alanine to threonine and ultimately forms amyloid fibrils (Podoly, Hanin, Soreq, 2010). Moreover, the mutation T14484C, methionine is replaced for valine. Methionine is responsible for protecting the cell lens from oxidative stress. When methionine is substituted the eye is not protected from the free radicals (Manna
Complex 1 NADH: ubiquinone oxidoreductase is mainly for the transferring of electrons within the mitochondrial in the respiratory chain (Garmier et.al, 2008). When the respiratory chain is not functioning properly, the glutamate transport becomes impaired and increases the oxidative transport species production (Yu-Wai-Man et al., 2013). Mitochondria mutations interrupt the respiratory chain that impair the cell retinal layer, which cause bilateral and central vision loss (Chinnery et al., 2001). Normally in the respiratory chain, NADH ubiquinone oxidoreductase catalyzes the transfer of two electrons across a membrane, which creates a charge that help with the formation of ATP (Garmier et.al, 2008). However, when the respiratory chain is not functioning properly, ATP is not able to be formed. For example, respiratory chain dysfunction in the eye causes the degeneration of the retinal ganglion and the optic nerve axon cell layer (Howell, 1997). Furthermore, degeneration of the retinal layer causes retinal detachment that leads to permanent vision loss (Yu-Wai-Man et al., 2013). …show more content…
For instance, a mutation called G11778A replaces arginine for histidine, which causes the formation of reactive oxygens. Ultimately, the formation of reactive oxygens causes a build up of proteins in the eyes that leads to blurry and permanent vision loss (Chinnery et al., 2001). Another example of a mutation that affects the normal functioning of NADH ubiquinone reductase is G3460A. The G3460A mutation substitutes alanine to threonine and ultimately forms amyloid fibrils (Podoly, Hanin, Soreq, 2010). Moreover, the mutation T14484C, methionine is replaced for valine. Methionine is responsible for protecting the cell lens from oxidative stress. When methionine is substituted the eye is not protected from the free radicals (Manna