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Reference
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1. Genetic Home Reference http://ghr.nlm.nih.gov/condition/leigh-syndrome
2. National Institute for Neurological Disorders and Stroke http://www.ninds.nih.gov/disorders/leighsdisease/leighsdisease.htm
3. Mitochondria Research Society http://www.mitoresearch.org/treatmentdisease.html
4. United Mitochondrial Disease Foundation http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934629
5. Online Mendelian Inheritance in Man http://www.omim.org/entry/185620
Consequences of Complex IV deficiency
less mitochondrial energy production
electrons are not transferred to oxygen to produce water
4 out of 10 protons per electron pair are not pumped to mitochondrial matrix
increased reliance on glycolysis
build-up of free radicals (reactive oxygen species)
reduced proton gradient is established
1. Description of the disease
- science of the disease
- statistics
- causes
2. Complex IV deficiency
- ETC overview
- structure and function of Complex IV
- genetics of the deficiency
3. Treatment
less ATP production
damage of DNA, cell membranes & mtDNA due to oxidation by ROS
toxic metabolite build-up (lactic acid)
lack of energy
inhibition of pyruvate dehydrogenase kinase
stimulation of pyruvate dehydrogenase
Binds to extra metabolites and escorts them out of the cells and into the kidneys for excretion in the urine
shifting the metabolism of pyruvate from fermentation towards oxidation in the mitochondria
Cause of the deficiency
SURF1 protein
Complex IV
SURF1 gene - in nuclear DNA - SURF1 protein - helps assemble Complex IV
mutation
Reduced formation of Complexes IV
Impaired mitochondrial energy production
Leigh's syndrome
April 29, 2010
September 28, 2011
The copper sites function as 1 electron carriers cycling between the cuprous state Cu+ and the cupric state Cu2+.
Assel Mustakhan
Akmaral Urazbayeva
Aisha Yesbolatova
B
A