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Gene > L.4 > Flashcards

L.4 Flashcards

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
Q

Identical mitDNA mutation can give ……….. and different mitDNA mutations can give ……..

A

Different manifestations, same manifestations

26
Q

LHON characteristics are

A

Vision loss , retina abnormalities

27
Q

Male are ………. More likely to get LOHN than female

A

4 times

28
Q

Some individuals with LHON and MS like illness are called

A

LHON pulse

29
Q

Where are the site of mutation in the mitochondria for LHON

A

ND1 , ND4 , ND6

30
Q

What are the mutations for each ND1 , ND4 , ND6

A

ND1 ( 3460G,A ) , ND4 ( 11778G,A ) , ND6 ( 14484T,C )

31
Q

If the mutation occur in less than 75% of the mitDNA it is more likely to get LHON . True or false

A

False

32
Q

Affected from LHON are homoplasmic . Explain

A

LHON to occur must have affected more than 75% of the mitDNA

33
Q

What are the advise to not get LHON ?

A

avoid smoking and alcohol and environmental toxin , do diet

34
Q

LHON depend on what

A

Age , gender

35
Q

…….% of make will show LHON in phenotype and ……. %Of femal will show

A

50% , 10%

36
Q

Why there are some carrier of LHON are unaffected

A

Because of compensatory mechanism

37
Q

Why men more likely to get LHON than women

A

Due to estrogens promote compensatory mechanism

38
Q

What does compensatory mechanism do

A

Activate and copy good Mitochondria

39
Q

Group J are more or less likely to get LHON ( with mutation code ),Parkinson disease ? Longer or lower life span

A

More likely to get LHON ( 11778 , 14484 )less likely to get Parkinson disease and longer life

40
Q

Group K are more or less likely to get LHON ,Parkinson disease

A

More likely to get LHON( 3460 ) less likely to get Parkinson disease

41
Q

Group J are more or less likely to get LHON ( with mutation code ),Parkinson disease ? Longer or lower life span

A

Less likely to get LHON ( 11778) more likely to get Parkinson disease and protection from sepsis

42
Q

Group I , T have lower or longer life

A

Longer life

43
Q

Characteristics of Leigh syndrome

A

Difficulties in breathing ( dysarthria) , swallowing ( dysphagia ) and speaking

44
Q

In Leigh syndrome there are necrotic lesion one here ?

A

Brain stem

45
Q

The lesion must be to Leigh syndrome occurs ?

A

Bilateral

46
Q

Usually Leigh syndrome occurs after ?

A

Viral infection

47
Q

Leigh syndrome affect what ?

A

PNS , non neurological abnormalities, respiratory system

48
Q

Leigh syndrome can rise by mutation in ……. Number of genes

A

More than 75 genes

49
Q

What are the Leigh syndrome pattern of inheritance can be used

A

Mitochondria line , De novo mutation , x linked recessive, autosomal recessive

Gene (4 decks)

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