3 and 4. Endogenous injury

Question 1

difference between endogenous and exogenous origin

Answer 1

endogenous = nature 
exogenous = nurture (environmenal)

Question 2

2 example of endogenous origin

Answer 2

genetic, aging

Question 3

5 examples of exogenous origin

Answer 3

physical
chemical
microbiological
immunologicak
nutriritonal

Question 4

cause of disease is….

Answer 4

multifactorial (both endo and exogenous)

Question 5

5 examples of diseases which have endogenous and exogenous cause

Answer 5

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

Question 6

3 environmental causes of schizophrenia

Answer 6

1. rubella
2. grief
3. CNS damage

Question 7

4 genes which cause schizophrenia

Answer 7

1. DISC1
2. dysbindin
3. neuregulin
4. G72

Question 8

environmental causes of adenomatous polyposis of colon

Answer 8

diet and lifestyle

Question 9

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

Answer 9

autosomal dominant or autosomal recessive

Question 10

genes causing breast cancer

Answer 10

BRCA1 and BRCA2

Question 11

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

Answer 11

5-10%

Question 12

what is ankylosing spondilitis?

Answer 12

spinal arthritis - leads to spinal rigidity

Question 13

gene responsible for ankylosing spondilitis

Answer 13

HLA-B27

Question 14

pathophysiology of MS

Answer 14

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

Question 15

4 environmental causes of MS

Answer 15

1. virus
2. location
3. vitamins
4. smoking

Question 16

which gene increases the risk of developing MS by 5 x

Answer 16

HLA-DW2

Question 17

what are MHCs?

Answer 17

set of genes which encode for cell surface molecules

Question 18

what is the function of MHCs

Answer 18

present pathogen fragments to T lymphocytes

Question 19

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

Answer 19

immune response in recipient

Question 20

what are minor chromosomal defects?

Answer 20

invisible single gene defects

Question 21

what are major chromosomal defects?

Answer 21

cause visible changes in chromosomes

Question 22

describe the cells in inherited gene mutations?

Answer 22

all cells have the mutation

Question 23

describe the cells in somatic gene mutations?

Answer 23

single cell gene mutation - these cells become clonal

Question 24

3 examples of major chromosomal abnormalities

Answer 24

1. down’s syndrome
2. turner syndrome
3. BM cancer

Question 25

describe genetics in turners syndrome

Answer 25

loss of X Ch - leaving only 45 Ch

Question 26

what causes turners and downs syndrome

Answer 26

random genetic event at conception

Question 27

effects of turners syndrome

Answer 27

1. short stature | 2. underdeveloped ovaries

Question 28

treatment for turners syndrome

Answer 28

incurable 1. GH 2. HRT 3. IVF (pregnancy)

Question 29

describe genetics for downs syndrome

Answer 29

trisomy of Ch21 - extra Ch = total 47

Question 30

3 effects of downs syndrome

Answer 30

1. reduced muscle tone 2. facial characteristics 3. learning difficulties

Question 31

describe genetics of multiple myeloma in BM cancer

Answer 31

increased number of Ch

Question 32

2 examples of minor chromosomal abnormalities

Answer 32

1. sickle cell anaemia | 2. Phenylketouria

Question 33

effects of SCD

Answer 33

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

Question 34

what is not produced in Phenylketouria?

Answer 34

phenylalannie hydroxylase

Question 35

effects of Phenylketouria?

Answer 35

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

Question 36

treatment of Phenylketouria

Answer 36

resticted diet - less Phe | Guthrie test at birth

Question 37

what are telomeres?

Answer 37

DNA which caps the ends of Ch

Question 38

what occurs to telomeres as we age?

Answer 38

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

Question 39

how do cancer cells gain immortality?

Answer 39

they have telomerase - which elongates the telomeres

Question 40

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

Answer 40

Hayflick limit

Question 41

does the hayflick limit increase or decrease with age

Answer 41

decrease

Question 42

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

Answer 42

quiescent

Question 43

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

Answer 43

scenescent

Question 44

8 features of scenesence

Answer 44

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

Question 45

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

Answer 45

1. they accumulate over time | 2. accumulate in age-related disease (CVD, Alzheimers)

Question 46

3 diseases of premature aging

Answer 46

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

Question 47

what occurs in an abdo aortic aneurysm?

Answer 47

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

Question 48

where is the mutation in Hutchinson-Gilford Progeria syndrome?

Answer 48

Lamin A

Question 49

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

Answer 49

14 years - CVD

Question 50

3 factors affecting aging?

Answer 50

1. telomere shortening 2. Oxidative stress 3. telomerase

Question 51

what 2 things can delay aging?

Answer 51

anti-oxidants | caloric restriction