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T HE GENETICS OF MITOCHONDRIAL DISEASE By: Dr Natasha Gerbis.

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Presentation on theme: "T HE GENETICS OF MITOCHONDRIAL DISEASE By: Dr Natasha Gerbis."— Presentation transcript:

1 T HE GENETICS OF MITOCHONDRIAL DISEASE By: Dr Natasha Gerbis

2 Mitochondria Mitochondria play an essential role in cellular metabolism Convert food into energy The “batteries” of the cell

3 Mitochondria Synthesize energy molecules called ATP via oxidative phosphorylation

4 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

5 Distribution of Mitochondria Tissues that require lots of energy have lots of mitochondria  Muscles  Heart  Eyes  Ears  GIT

6 For example

7 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

8 Mitochondrial disease inheritance

9 Mitochondrial inheritance Caused by mitochondrial DNA mutations Mitochondrial DNA is inherited from the mother only

10 Mitochondrial inheritance http://www.dmc.org/information-for-mitochondrial-medicine-center-patients.html

11 Mendelian Inheritance Caused by mutations in the nuclear genome Nuclear DNA is inherited from both parents

12 Autosomal dominant http://www.natera.com/single-gene-testing

13 Autosomal recessive http://www.npr.org/

14 Sporadic disease Affected

15 QUESTIONS?


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