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Mitochondrial DNA

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Sylvia Lee

on 6 October 2014

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Transcript of Mitochondrial DNA

mtDNA and Kearnes-Sayre Syndrome
The Importance of mtDNA
mitochondria are located in
single cell in your body
mutations in mtDNA can affect any part of your body (why symptoms are so wide ranging)
37 genes, all essential for function
Types of Mitochondrial DNA Diseases
Cyclic Vomiting Syndrome (CVS)- disorder with episodes of severe nausea, vomiting, and exhaustion
Mitochondrial DNA

What is Mitochondrial DNA?

a small amount of DNA located in mitochondria
Nadia Russell and Sylvia Lee
considered as evidence of the Endosymbiotic Theory
circular in shape
Leigh Syndrome- progressive brain disorder that affects muscle development
Kearns-Sayre Syndrome- primarily affects eye muscles as a result of mtDNA depletion
caused by mitochondrial DNA deletions
lack of necessary mtDNA causes loss of genes that make up mitochondrial proteins and phosphorylation
- most common deletion is
around 4,9997 nucleotides
(12 genes)
Why do these deletions in mtDNA matter?
all steps in oxidative phosphorylation are affected --> decreases the production of cellular energy
all eye muscle cells are affected --> ragged red fibers

13 of these genes code for enzymes for oxidative phosphorylation
24 code for transfer RNA and ribosomal RNA that function in the mitochondria to create proteins it needs for cellular respiration
the Kreb's Cycle happens in the mitochondria
mutations in this DNA disrupt the mitochondria's ability to provide energy
tissues that require a lot of energy suffer the most
eg brain, muscles, heart
symptoms of different diseases are similar for this reason
percent of mutated mtDNA can vary among tissues, can change over time
mtDNA mutates often and is less commonly fixed bc it doesn't have the same error checking that DNA has
How common is mitochondrial disease?
one in 2,000 children in the US develop it by the age of 10
1k-4k children are born each year with a mitochondrial disease in the US
adults: diseases of aging have been linked to mitochondrial dysfunction
"About Mitochondrial Disease - Mito FAQ." Mitochondrial
Disease Action Committee. Web. 4 Oct. 2014.

"Cyclic Vomiting Syndrome." National Digestive Diseases
Information Clearinghouse (NDDIC). National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). Web. 4 Oct. 2014.

"Kearns-Sayre Syndrome." Genetics Home Reference.
National Library of Medicine. Web. 4 Oct. 2014.

Microscopic Image of Red Fibers. Digital image.
Neuromuscular. Neuromuscular Disease Center. Web. 4 Oct. 2014.

"Mitochondrial Disorders." Mitochondrial Disorders. Web. 4 Oct.
2014. <http://neuromuscular.wustl.edu/mitosyn.html>

Mitochondrial DNA Diagram. Digital image. Genome:
Unlocking Life's Code. National Human Genome Research Institute (NHGRI). Web. 4 Oct. 2014. <http://unlockinglifescode.org/sites/default/files/mitochondrial_dna_lg.jpg>.

"Mitochondrial DNA." Genetics Home Reference. National
Library of Medicine. Web. 4 Oct. 2014. http://ghr.nlm.nih.gov/mitochondrial-dna

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