Lecture 07 - Mitochondria Disease

Lecture 07 - Mitochondria Disease - -Usually no ragged red...

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Disesae Incidence Symptoms Mechaism Treatment LHON (Leber’s Hereditary Optic Neuropathy) Uncommon - Frequent mitochondrial disease seen by ophthalmologists Vision loss - Progressive loss - Usually age 10-30 years - Often accompanied by Has - Usually a Comple I defect (OMIM#53500) - Histologic damage to both nerves and muscles of the eyes - No proven treatment - Experimental agents only MELAS (Myopathy, Enchephalopathy, Lactic Acidosis and Stroke like episodes) Most common single mito disease seen by pediatricians - Stroke like episodes - Sensory failure - Lactic acidosis
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Unformatted text preview: -Usually no ragged red fibers-Defect in mtDNA Usually tRNA-leucine defect UUR mutation is seen A3243G substitution OMIM540000-DCA (Dicholoracetate) Activates pyruvate dehydrogenase May relieve lactic acidosis NOT a CURE MERRF (Myoclonus Epilepsy with Ragged Red muscle Fibers Rare -Neurological Epilepsy, ataxia (clumbiness) Hearing loss Ragged red ribers on pathology of muscle tissue -Defect in mDNA Usually a defect in tRNA lysine OMIM 545000-Supportive...
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This note was uploaded on 09/14/2011 for the course PHARM ERM taught by Professor Staff during the Spring '11 term at UCSD.

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Lecture 07 - Mitochondria Disease - -Usually no ragged red...

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