Mitochondrial Inheritance Flashcards

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1
Q

Describe the structure of mitochondrial DNA.

A

Closed circular molecules with each molecule containing a full set of mitochondrial genes.

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2
Q

How many mitochondria are there per human cell on average?

A

100

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3
Q

How are mitochondria inherited?

A

Maternally.

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4
Q

How many genes are in the human mitochondrial genome?

A

37 genes.

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5
Q

How many genes in the human mitochondrial genome are heavy strand (guanine-rich)?

A

28 genes.

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6
Q

How many genes in the human mitochondrial genome are light strand (cytosine-rich)?

A

9 genes.

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7
Q

Why is mitochondrial inheritance classed as ‘non-Mendelian’?

A

Mendelian inheritance presumes half the genetic material of a fertilised egg derives from each parent. This does not happen with the mitochondrial genome.

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8
Q

How can mitochondrial diseases be inherited?

A

Maternally or chromosomally.

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9
Q

If your mother has a mitochondrial mutation, what is the likelihood this mutation will be passed on?

A

100%

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10
Q

What happens to paternal mitochondria (from sperm) during fertilisation?

A

They are actively decomposed.

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11
Q

What are mitochondrial myopathies?

A

Neuromuscular diseases caused by mitochondrial damage.

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12
Q

What are the symptoms for mitochondrial myopathies?

A

Poor growth, muscle coordination loss, muscle weakness, visual/hearing/learning difficulties, heart/liver/kidney disease. Many others.

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13
Q

How does the HIV/AIDS treatment azidothyramidine (AZT) sometimes lead to abnormal mitochondrial function?

A

AZT inhibits DNA polymerase involved in HIV replication. Mitochondrial DNA polymerase gamma is also targeted as a result.

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14
Q

What is Leigh syndrome?

A

mtDNA disease. Symptoms include diarrhea, vomiting, seizures and trouble sucking/swallowing. Caused by loss of energy production. Leads to death in several years.

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