L.4 Flashcards

(49 cards)

1
Q

What is mitochondria

A

Double membrane organelle and the powerhouse

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2
Q

Mitochondria has independent?

A

Genom

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3
Q

Most of the mit genome is

A

Transcribed ( 93%)

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4
Q

How many genes in mitochondria

A

37 genes

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5
Q

……… of the genes are ……..

A

24 , Encoded non mRNA

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6
Q

……… of the gene are ………

A

13 , transcribed proteins

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7
Q

Mention the 24 gene ( encoded non mRNA

A

22 for tRNA
1 for 23S rRNA
1 for 16S rRNA

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8
Q

Mention the 13 transcribed genes

A

7 NADH dehydrogenase, 3 cytochrome C ( COX ) , 2 ATPase , 1 cytochrome B

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9
Q

Reactive oxygen species (ROS ) generated during which process

A

ATP synthesis

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10
Q

Why O2 consumption must correspond with ATP synthesis

A

To neutralize ROS

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11
Q

If O2 consumption not correspond with ATP synthesis what will happen

A

Accumulation of ROS

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12
Q

Accumulation of ROS happen during what

A

Mit disease and fever

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13
Q

Most mit proteins encoded from what

A

Nuclear genom

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14
Q

Why mit disorder related to nuclear DNA

A

Because most of the mitochondrial proteins come from nucleus

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15
Q

How many genes required for ATP synthesis

A

90 genes

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16
Q

Mit DNA is only inherited from ?

A

Mothers

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17
Q

Why does the mitochondrial DNA only inherited from the mother

A

Because fertilized oocyte will degrade the mitDNA of the sperm

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18
Q

What is the region in the mitochondria that differe from one person to another

A

Control region

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19
Q

What makes the variation in the mitochondria

A

Mutations

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20
Q

Why mutation make the variation in mitochondria

A

Because there is no repair mechanism in mitochondria

21
Q

Define homopalsy

A

All mitDNA is the same

22
Q

Define hereropalsmy

A

Variation in mitDNA

23
Q

Define intracellulare heteroplasmy

A

Variation within the cell

24
Q

Define intercellular heteroplasmy

A

Variation between cells

25
Identical mitDNA mutation can give ……….. and different mitDNA mutations can give ……..
Different manifestations, same manifestations
26
LHON characteristics are
Vision loss , retina abnormalities
27
Male are ………. More likely to get LOHN than female
4 times
28
Some individuals with LHON and MS like illness are called
LHON pulse
29
Where are the site of mutation in the mitochondria for LHON
ND1 , ND4 , ND6
30
What are the mutations for each ND1 , ND4 , ND6
ND1 ( 3460G,A ) , ND4 ( 11778G,A ) , ND6 ( 14484T,C )
31
If the mutation occur in less than 75% of the mitDNA it is more likely to get LHON . True or false
False
32
Affected from LHON are homoplasmic . Explain
LHON to occur must have affected more than 75% of the mitDNA
33
What are the advise to not get LHON ?
avoid smoking and alcohol and environmental toxin , do diet
34
LHON depend on what
Age , gender
35
…….% of make will show LHON in phenotype and ……. %Of femal will show
50% , 10%
36
Why there are some carrier of LHON are unaffected
Because of compensatory mechanism
37
Why men more likely to get LHON than women
Due to estrogens promote compensatory mechanism
38
What does compensatory mechanism do
Activate and copy good Mitochondria
39
Group J are more or less likely to get LHON ( with mutation code ),Parkinson disease ? Longer or lower life span
More likely to get LHON ( 11778 , 14484 )less likely to get Parkinson disease and longer life
40
Group K are more or less likely to get LHON ,Parkinson disease
More likely to get LHON( 3460 ) less likely to get Parkinson disease
41
Group J are more or less likely to get LHON ( with mutation code ),Parkinson disease ? Longer or lower life span
Less likely to get LHON ( 11778) more likely to get Parkinson disease and protection from sepsis
42
Group I , T have lower or longer life
Longer life
43
Characteristics of Leigh syndrome
Difficulties in breathing ( dysarthria) , swallowing ( dysphagia ) and speaking
44
In Leigh syndrome there are necrotic lesion one here ?
Brain stem
45
The lesion must be to Leigh syndrome occurs ?
Bilateral
46
Usually Leigh syndrome occurs after ?
Viral infection
47
Leigh syndrome affect what ?
PNS , non neurological abnormalities, respiratory system
48
Leigh syndrome can rise by mutation in ……. Number of genes
More than 75 genes
49
What are the Leigh syndrome pattern of inheritance can be used
Mitochondria line , De novo mutation , x linked recessive, autosomal recessive