Mitochondiral genetics Flashcards

1
Q

What is homoplasmy in mitochondria

A

All copies of mitchondiral genome are the same

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2
Q

What is heteroplasmy in mitochondria

A

More than one type of mitochondrial genome present

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3
Q

Why can mitochondrial diseases have nuclear origins

A

Nuclear proteins are involved in the function of mitochondria

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4
Q

Describe the features of a mitochondrial disease caused by nuclear genome mutations

A

Same inheritance patterns as Mendelian disorders

Caused by defects in genes involved in replication, transcription, translation and repair of mitochondrial DNA

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5
Q

How does damage to Parkin/PINK1 pathway lead to parkinsons

A

Normally PINK1 is imported into the mitochondria, cleaved and released; but damage to mitochondria causes depolarisation of membranes, so PINK1 accumulaties in the outer membrane of MT which cases Parking to be recruited into mitochondria triggering autophagy. Build-up of disfunctional mitochondria

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6
Q

What is the link between mitochondrial diseases and cancer

A

Cancerous tumours produce excess lactte in the presence of oxygen (Warburg effect); high rate of glucose uptake by solid tumours is used for diagnosis; evidence of defective mitochondria

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7
Q

What effect does mtDNA have on tumour development

A

Cells without mtDNA show slower tumour formation

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