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Pathology > Cell Response to Injury: Endogenous injury 1 > Flashcards

Cell Response to Injury: Endogenous injury 1 Flashcards

1
Q

what can be classified as endogenous injury?

A

can be primarily genetic but can still be influenced by exogenous factors e.g. phenylketonuria (PKU) and diet

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2
Q

what are examples of exogenous injury?

A
  • Something from the external environment – e.g. Ebola
  • Primarily environmental causes but may be a genetic influence on persons resistance
  • The environment may act via genes
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3
Q

what cell injuries can cause disease?

A

The cause of disease is multifactorial and often includes both endogenous and exogenous injury

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4
Q

what are some examples of how genes can influence a persons response to the environment?

A
  • schizophrenia
  • neoplasia
  • breast cancer
  • Major Histocompatibility complex (MHC)
  • MHC - ankylosing spondylitis
  • MHC - Multiple sclerosis
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5
Q

what is schizophrenia?

A

Breakdown in relationship between thought, emotion and behaviour leading to a faulty perception about reality

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6
Q

what is the genetic factor linked to schizophrenia?

A
  • 20-70% in monozygotic twins
  • Genetic role - DISC1, dysbindin, neuregulin, G72 amongst others
  • BUT environmental stimuli are important too - Rubella, grief, CNS damage
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7
Q

what is neoplasia?

A

New and abnormal growth of tissue – rapid division of cells that have acquired a mutation

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8
Q

what is the genetic factor linked to neoplasia?

A
  • Familial adenomatous polyposis of the colon
  • Benign and cancerous polyps in the colon and rectum
  • Autosomal dominant (APC) or autosomal recessive (MUTYH)
  • Diet and lifestyle can influence the disease
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9
Q

what is MHC?

A

MHC = set of genes encoding cell surface molecules that determine histocompatibility
• Present pathogen peptide fragments for T cells
• Recognition of self

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10
Q

what is the genetic factor linked to MHC?

A
  • HLA genes highly polymorphic (~1500 alleles)

* Graft rejection – donor HLA on cell surface elicits immune response in recipient

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11
Q

what is ankylosing spondylitis?

A
  • Spinal arthritis primarily affecting young males, causing ankylosis of vertebral and sacroiliac joints
  • Arthritic fusion of sacroiliac and vertebral joints
  • Ossification of spinal ligaments leading to spinal rigidity
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12
Q

what is the genetic factor linked to ankylosing spondylitis?

A
  • HLA-B27 variant
  • 95% of AS patients
  • 9% of general population
  • Only 1:15 HLA-B27 +ve people develop AS
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13
Q

what is multiple sclerosis?

A
  • Progressive disease of the spinal cord and brain

* Patches of demyelination: Loss of nerve conductance and muscle control leads to paralysis and death

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14
Q

what is the genetic factor linked to multiple sclerosis?

A
  • HLA-DW2 variant
  • 5x more likely to develop MS
  • Viruses, location, vitamins, smoking
  • Only 2% chance of passing on to offspring
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15
Q

what are examples of major chromosomal abnormalities?

A
  • neoplastic cells
  • turner syndrome
  • Down’s syndrome
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16
Q

what are the chromosomal abnormalities of neoplastic cells?

A

rapid division of cells that have acquired a mutation. often have increased number of chromosomes

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17
Q

what causes turner syndrome?

A

45 chromosomes – loss of an X chromosome

Random genetic event occurring at conception

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18
Q

what are the clinical features of turner syndrome?

A

Short stature, underdeveloped ovaries

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19
Q

what is the treatment for Turner syndrome?

A

Incurable but treatment with growth hormone, HRT, IVF

20
Q

what causes down’s syndrome?

A

47 chromosomes – trisomy of chromosome 21

Random genetic event occurring at conception
Child of Down’s parent = 1:2

21
Q

what are the clinical features of Down’s syndrome?

A

Reduced muscle tone, facial characteristics, learning problems

22
Q

what is the treatment for Down’s syndrome?

A

Incurable, treatment based around social care and support

23
Q

what are the outcomes of minor chromosomal abnormalities?

A

invisible - single gene defect

24
Q

what is sickle cell anaemia?

A

Hereditary anaemia caused by mutation in haemoglobin. Red blood cells become crescent shaped in low O2

25
Q

what is the genetic cause of sickle cell anaemia?

A

Single base substitution in haemoglobin beta chain

Rare recessive – need two copies
One copy = sickle cell trait

26
Q

what is sickle cell anaemia protective against?

A

malaria

27
Q

what is phenylketonuria?

A

The inability to metabolise phenylalanine (Phe)

28
Q

what is phenylalanine used for?

A
  • Amino acid synthesis e.g. tyrosine
  • Neurotransmitters – dopamine, adrenalin
  • Skin biology – melanin
29
Q

what causes the lack of phenylalanine metabolism?

A

A lack of phenylalanine hydroxylase so Phe cannot be broken down, but also dietary factors.

30
Q

what is the outcome of reduced phenylalanine metabolism?

A

15-100x increase of phenylalanine in the blood and the CSF which leads to myelination in developing brain and can result in severe mental retardation

31
Q

how can phenylketonuria be treated?

A
  • Restricted diet

* Guthrie test at birth

32
Q

what are signs of ageing?

A
  • Greying and/or loss of hair
  • Muscle weakness/atrophy
  • Skin thinning
33
Q

what are some disorders linked to ageing?

A
  • Cancer
  • Glaucoma
  • Alzheimer’s disease/ dementia
  • Cardiovascular disease
  • Type 2 Diabetes Mellitus
34
Q

what are telomeres?

A

Long stretches of DNA that cap the end of chromosomes

35
Q

what happens to telomeres during cell division?

A

Part of telomere lost at each cell division which leads to protect coding DNA from decay

36
Q

what does telomere shortening lead to?

A

Gradually leads to ageing and the loss of ability to divide

37
Q

what is telomerase?

A

Reverse transcriptase enzyme that elongates telomeres

38
Q

what is the Hayflick limit?

A

The number of times a cell will divide until cell division stops

39
Q

what is senescence?

A

Cells stop dividing and undergo phenotypic alteration

40
Q

why do we get more senescent cells with age?

A

There is an imbalance between damaging stimuli and cell clearance which leads to:
• Accumulation in aged humans, primates and rodents
• Accumulation in age-related disease – e.g. CV disease and Alzheimer’s disease

41
Q

what are the factors that affect ageing?

A
  • Telomere length
  • Telomerase activity
  • DNA damage/repair mechanisms
  • Dietary factors
42
Q

what are examples of premature ageing?

A

CV disease - abdominal aortic aneurysm

progeria

Werner syndrome

43
Q

what is abdominal aortic aneurysm?

A
  • Dilation of the aorta
  • Rupture = 90% mortality
  • Inflammation
  • Loss of smooth muscle cells
44
Q

what is progeria?

A

Hutchinson-Gilford Progeria Syndrome = mutation in Lamin A, nuclei become unstable leading to premature ageing

45
Q

what are the features of progeria?

A
  • Rapid ageing from 18-24 months

* Children die aged ~14 from cardiovascular disease

46
Q

what is Werner syndrome?

A

Rare progressive disorder characterised by premature ageing

47
Q

what are the features of Werner syndrome?

A
  • Growth halted at puberty, visible ageing ~25 years

* Life expectancy 40-50 years, mortality from cardiovascular disease

Pathology (17 decks)

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