{[ promptMessage ]}

Bookmark it

{[ promptMessage ]}

Lecture 07 - Mitochondria Disease

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

Info iconThis preview shows pages 1–2. Sign up to view the full content.

View Full Document Right Arrow Icon
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 -
Background image of page 1

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full Document Right Arrow Icon
Background image of page 2
This is the end of the preview. Sign up to access the rest of the document.

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...
View Full Document

{[ snackBarMessage ]}

Page1 / 2

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

This preview shows document pages 1 - 2. Sign up to view the full document.

View Full Document Right Arrow Icon bookmark
Ask a homework question - tutors are online