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Download Genetics of mitochondrial disease
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THE GENETICS OF MITOCHONDRIAL DISEASE By: Dr Natasha Gerbis Mitochondria • Mitochondria play an essential role in cellular metabolism • Convert food into energy • The “batteries” of the cell Mitochondria • Synthesize energy molecules called ATP via oxidative phosphorylation Mitochondria • Present in every cell in the body, except for mature red blood cells • Some cells have only a few mitochondria • Other cells may contain up to 2000 mitochondria Distribution of Mitochondria • Tissues that require lots of energy have lots of mitochondria Muscles Heart Eyes Ears GIT For example Mitochondrial genetics • Over 1500 genes make up the genetic code responsible for producing one mitochondrion • 37 genes are coded for by mitochondrial DNA • The rest are encoded by the nuclear genome Mitochondrial disease inheritance Mitochondrial inheritance • Caused by mitochondrial DNA mutations • Mitochondrial DNA is inherited from the mother only Mitochondrial inheritance http://www.dmc.org/information-for-mitochondrial-medicine-center-patients.html Mendelian Inheritance • Caused by mutations in the nuclear genome • Nuclear DNA is inherited from both parents Autosomal dominant http://www.natera.com/single-gene-testing Autosomal recessive http://www.npr.org/ Sporadic disease Affected QUESTIONS?
