Leber’s hereditary optic neuropathy LHON

Leber s hereditary optic neuropathy (LHON) is caused by a mutation of the ND1 gene encoding an eie-ment of complex I of the eiectron transport chain and other simiiar mutations. 

Mildly deleterious base substitutions 2. Moderately deleterious nucleotide substitutions 3. Severe nucleotide substitutions Familial deafness, Alzheimer s disease, Parkinson s disease Leber s Hereditary Optic Neuropathy (LHON), Myoclonic Epilepsy and Ragged-Red Fiber disease (MERRF) Leigh s Syndrome dystonia... 

Like the mitochondria themselves, some genetic diseases of energy metabolism are maternally inherited. One such disease, Leber s hereditary optic neuropathy (LHON), causes blindness and heart problems. People with LHON have a reduced ability to make ATP. As a result, sensitive tissues that demand a great deal of energy eventually die. LHON sufferers eventually lose their sight because the optic nerve dies from lack of energy. 

Several diseases are caused by oxygen damage from the patient s own mitochondria, which are hot spots for ROS generation. In one of these diseases, Leber s hereditary optic neuropathy (LHON), the mitochondrial proteins that carry electrons and pump protons are broken. The first cells to die are the energy-burning optic nerve cells. The cells die because their broken mitochondria leak too many ROS. 

LHON (Leber s hereditary optic neuropathy) causes blindness arising from mutations in the ND1 gene encoding complex I of the electron transport chain (see Chapter 7). 

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