Genetics: Mitochondrial Disorders- pdf

Question 1

Mitochondrial disorders

Answer 1

Genetic defects affecting the body’s ability to make ATP

Question 2

Mutations associated with mitochondrial disorders can be (2)

Answer 2

• In the genomic DNA or

- in the mitochondrial DNA

Question 3

Heteroplasmy (5) hn

Answer 3

• The situation in which, within a single cell, there is a mixture of mitochondria, some containing mutant mtDNA and some containing normal mtDNA
• The proportion of mutant mtDNA varies from cell to cell and is mutation and tissue dependent
• The amount of mutant mtDNA can change over time in a cell or tissue

Question 4

Mitochondrial disorders primarily affect (4)

Answer 4

Organs with high energy demands, such as

	- Brain
	- Heart
	- Skeletal muscle

Question 5

Common organ failures associated with mitochondrial disorders (3)

Answer 5

• Hearing and vision loss

- Endocrine tissue and renal involvement are frequently observed

Question 6

How to manage mitochondrial disorders (3)

Answer 6

1. Increase energy supply
2. Decrease energy demand
3. Protect mitochondria from reactive oxygen species

Question 7

Methods of increasing energy supply for mitochondrial disorder treatment (2)

Answer 7

• Exercise

- Cofactors

Question 7

Methods of protecting mitochondria from reactive oxygen species for mitochondrial disorder treatment

Answer 7

Anti-oxidants

Question 8

Methods of decreasing energy demand for mitochondrial disorder treatment (3)

Answer 8

• Avoid fasting
• Avoid other high-demand situations
• Avoid steroids