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2=Pathology > 3 and 4. Endogenous injury > Flashcards

3 and 4. Endogenous injury Flashcards

1
Q

difference between endogenous and exogenous origin

A 
endogenous = nature 
exogenous = nurture (environmenal)
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2
Q

2 example of endogenous origin

A

genetic, aging

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3
Q

5 examples of exogenous origin

A 
physical
chemical
microbiological
immunologicak
nutriritonal
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4
Q

cause of disease is….

A

multifactorial (both endo and exogenous)

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5
Q

5 examples of diseases which have endogenous and exogenous cause

A
  1. schizophrenia
  2. breast cancer
  3. adenomatous polyposis of colon
  4. ankylosing spondilitis
  5. MS
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6
Q

3 environmental causes of schizophrenia

A
  1. rubella
  2. grief
  3. CNS damage
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7
Q

4 genes which cause schizophrenia

A
  1. DISC1
  2. dysbindin
  3. neuregulin
  4. G72
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8
Q

environmental causes of adenomatous polyposis of colon

A

diet and lifestyle

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9
Q

in terms of genetics, what can adenomatous polyposis of colon exist as?

A

autosomal dominant or autosomal recessive

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10
Q

genes causing breast cancer

A

BRCA1 and BRCA2

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11
Q

what % of cases of breast cancer are the inherited type?

A

5-10%

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12
Q

what is ankylosing spondilitis?

A

spinal arthritis - leads to spinal rigidity

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13
Q

gene responsible for ankylosing spondilitis

A

HLA-B27

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14
Q

pathophysiology of MS

A

patches of demyelination causes loss of nerve conductance + muscle control - leads to paralysis and death

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15
Q

4 environmental causes of MS

A
  1. virus
  2. location
  3. vitamins
  4. smoking
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16
Q

which gene increases the risk of developing MS by 5 x

A

HLA-DW2

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17
Q

what are MHCs?

A

set of genes which encode for cell surface molecules

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18
Q

what is the function of MHCs

A

present pathogen fragments to T lymphocytes

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19
Q

what can HLA/MHC complexs cause in a graft rejection?

A

immune response in recipient

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20
Q

what are minor chromosomal defects?

A

invisible single gene defects

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21
Q

what are major chromosomal defects?

A

cause visible changes in chromosomes

22
Q

describe the cells in inherited gene mutations?

A

all cells have the mutation

23
Q

describe the cells in somatic gene mutations?

A

single cell gene mutation - these cells become clonal

24
Q

3 examples of major chromosomal abnormalities

A
  1. down’s syndrome
  2. turner syndrome
  3. BM cancer
25
Q

describe genetics in turners syndrome

A

loss of X Ch - leaving only 45 Ch

26
Q

what causes turners and downs syndrome

A

random genetic event at conception

27
Q

effects of turners syndrome

A
  1. short stature

2. underdeveloped ovaries

28
Q

treatment for turners syndrome

A

incurable

  1. GH
  2. HRT
  3. IVF (pregnancy)
29
Q

describe genetics for downs syndrome

A

trisomy of Ch21 - extra Ch = total 47

30
Q

3 effects of downs syndrome

A
  1. reduced muscle tone
  2. facial characteristics
  3. learning difficulties
31
Q

describe genetics of multiple myeloma in BM cancer

A

increased number of Ch

32
Q

2 examples of minor chromosomal abnormalities

A
  1. sickle cell anaemia

2. Phenylketouria

33
Q

effects of SCD

A

RBC have sickle cell shape which prevents them from carryin much oxygen

34
Q

what is not produced in Phenylketouria?

A

phenylalannie hydroxylase

35
Q

effects of Phenylketouria?

A

cannot metabolise phenylalanine - causing myelination in brain and mental retardation.

36
Q

treatment of Phenylketouria

A

resticted diet - less Phe

Guthrie test at birth

37
Q

what are telomeres?

A

DNA which caps the ends of Ch

38
Q

what occurs to telomeres as we age?

A

they shorten at each cell divison - leading to lost ability to divide

39
Q

how do cancer cells gain immortality?

A

they have telomerase - which elongates the telomeres

40
Q

term to describe the number of times a cell divides until cell division stops

A

Hayflick limit

41
Q

does the hayflick limit increase or decrease with age

A

decrease

42
Q

term given to cells which are temporarily inactive and do not continue with the cell cycle?

A

quiescent

43
Q

term given to cells which are permanently inactive and do not continue with the cell cycle?

A

scenescent

44
Q

8 features of scenesence

A
  1. telomere attrition
  2. wound healing
  3. inflammation
  4. scenescene associated secretoryphenotype
  5. angiogenesis
  6. DNA damage/ROS
  7. cell cycle withdrawl
  8. proliferation
45
Q

2 reasons why we get more scenescent cells as we age?

A
  1. they accumulate over time

2. accumulate in age-related disease (CVD, Alzheimers)

46
Q

3 diseases of premature aging

A
  1. CVD - abdominal aortic aneurysm
  2. progeria
  3. werner syndrome
47
Q

what occurs in an abdo aortic aneurysm?

A
  1. dilation of aorta
  2. rupture leads to death of cells
  3. inflammation
  4. loss of smooth muscle cells
48
Q

where is the mutation in Hutchinson-Gilford Progeria syndrome?

A

Lamin A

49
Q

what age do children usually die at in progeria? why?

A

14 years - CVD

50
Q

3 factors affecting aging?

A
  1. telomere shortening
  2. Oxidative stress
  3. telomerase
51
Q

what 2 things can delay aging?

A

anti-oxidants

caloric restriction

2=Pathology (13 decks)

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