3.12 Biochemistry and Genetics of Mitochondrial Disease

Question 1

Explain replicative segregation, heteroplasmy, and the mode of inheritence of mitochondrial disorders.

Answer 1

Multiple copies of the nucleoid genome do not follow diploid characteristics, but follow prokaryotic methods

Question 2

Provide an explanation for the pleiotropy of mitochondrial disorders

Answer 2

ATP production is critical in many different cellular processes, and alteration, and alteration of this production would therefore have pleiotropic effects.

Question 3

Differentiate between mutations within the mitochondrial and nuclear genomes in the pathogenesis and inheritance of mitochondrial disorders

Answer 3

Mutation in nuclear DNA can be inherited from both parents, but mtDNA can only be inherited from the mother.

Question 4

Describe strategies to treat mitochondrial disorders and to prevent their transmission.

Answer 4

We can’t currently treat mitochondrial disorders, nor can we prevent transmission.

Question 5

Describe the role of mitochondria within cells and their contribution to aging and neurodegenerative diseases.

Answer 5

Mitochondrial dysfunction leads to ROS buildup and decline in ATP production.