Mitochondrial oxidative phosphorilation and genetics
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Mitochondrial Oxidative Phosphorilation and Genetics. Abigail Hardy. The Mitochondria. Thousands of mitochondria in high energy areas Contact sites facilitate the entry of protiens into matrix Produces ~90% of the cellular ATP in eukaryotic cells. Major Protien Complexes.

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The mitochondria
The Mitochondria

  • Thousands of mitochondria in high energy areas

  • Contact sites facilitate the entry of protiens into matrix

  • Produces ~90% of the cellular ATP in eukaryotic cells

Oxidative phosphorylation

Complexes I to IV, in addition to other components, act together as an electron transport chain

Protons in intermembrane space form an electrochemical gradient, which provides potential energy used by complex V for the phosphorylation of ADP to ATP.

Membrane channel protien (ANT) transports ATP out and ADP into matrix

1:1 ratio of transfer

Both ADP and ATP move freely through the outer membrane

Oxidative Phosphorylation

Mitochondrial dna

Mitochondria have their own genetic apparatus together as an electron transport chain

Circular (16,568 bp)

2-10 separate mitochondrial gemomes in matrix

Carries information for:

2 rRNAs

22 tRNAs

13 proteins

The 13 proteins encoded are involved in OXPHOS functions

Nuclear genes encode about 70 additional protiens that make up the OXPHOS system

A mitochondrion is the joint product of two different genetic systems

Mitochondrial DNA

Human mitochondrial genome
Human Mitochondrial Genome together as an electron transport chain

Mitochondrial replication
Mitochondrial Replication together as an electron transport chain

  • During mitochondrial multiplication each genome is randomly distributed to a daughter mitochondrion

  • Does NOT follow the Mendelian pattern of inheritance b/c not part of chromosomal system

  • Details of mitochondrial reproduction are not known

Mitochondrial genetics
Mitochondrial Genetics together as an electron transport chain

  • Mitochondria of the zygote come from the oocyte (mother) and almost never the sperm (father)

  • If the same set of symptoms in a number of various multigenerational families is inherited only from affected females and almost never from affected males, then there is a strong likelihood that it is caused by a mutation in one of the mitochondrial DNA genes

Oocyte mitochondria

Human oocyte loses mitochondria as it matures through the genetic bottleneck

Mitochondria are randomly distributed into daughter cells

Mitochondrial Mutation Load= the ratio of mutated to normal mitochondrial DNA

Homoplasmy= all mitochondria of a cell or tissue have the same genome

Heteroplasmy= contains both mutant and wild-type genomes

Proportion of mutant to wild-type M. DNA determines if energy shortage occurs

Threshold for phenotypic expression

Oocyte Mitochondria

Bibliography genetic bottleneck

  • Widmaier, E.P., Raff, H., Strang, K.T. Vander’s Human Physiology: The Mechanisms of Body Function. 10th ed. Boston: McGraw-Hill, 2005.

  • dave/roanoke/bio101ch06.htm