Disease models Flashcards

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1
Q

frozen addicts- southern cali 1982

A

a 42 year old addict in a californian jail became paralysed. His symptoms caused by a bad batch of synthetic heroin, were indistinguishable from those associated with Parkinsons. Doctors traced his symptoms to an addictive he had ingested in a bad batch of heroin. How case helped unlock some mysteries about parkinson.

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2
Q

parkinsons disease

A

a degeneratie nerve disorder, related to loss of dopamine. Dopamine is predominately produced in the substantia nigra
- parkinsons is cause by specific loss of dopamine producing neutrons

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3
Q

symptoms of parkinson are relieved by

A

L-DOPO or levadopa

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4
Q

what causes the addicts to freeze

A

impurities found in bad batch of heroine called MPTP targeted a region of the midbrain called the substantia nigra. This area contains most of the cells which produce the NT, dopamine essential for control of movement and feeling pleasure

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5
Q

although humans are the only animals to get parkinson..

A

several therapies such as deep brain stimulation and different drugs were tested on animals

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6
Q

mice can be made diabetic with chemical

A

type 1 diabetes is caused by an autoimmune destruction of insulin producing B-cells

  • chemical destruction go B-cells can used to induce hyperglycaemia
  • test therapies to lower blood sugar
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7
Q

normal mice can also be used e.g.

A

to test the response t burns or infections

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8
Q

don’t always have to use whole animals e.g.

A

in the CML case unit we saw how individual cells could modified with BCR-ABL
- imatinib could be tested in vitro.

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9
Q

what is the difference between cells in a dish and in a body

A
  • 2D vs 3D matrix
  • cell/cell contact
  • complex signal
  • matrix rigidity
  • pO2- normoxic conditions
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10
Q

mice

A
  • mammals, small and fast breeding
  • several inbred strains exist which mimic aspects of human disease.
  • however do not necessarily reflect cause of human disease
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11
Q

why are inbred mice good to use

A

due to them having similar genetic background- can control environment

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12
Q

what makes a good disease model

A
  • small
  • cheap
  • short lifespans
  • easy to care for
  • similar genes to humans
  • breed quickly and have multiple offspring
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13
Q

Saccharomyces cerevisiae

A

Yeast Used for biological studies of cell processes (e.g., mitosis) and diseases (e.g., cancer)

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14
Q

Pisum sativum

A

Pea plant Used by Gregor Mendel to describe patterns of inheritance

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15
Q

Drosophila melanogaster

A

Fruit fly Employed in a wide variety of studies ranging from early gene mapping, via linkage and recombination studies, to large scale mutant screens to identify genes related to specific biological functions

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16
Q

Caenorhabditis elegans

A

Roundworm (nematode) Valuable for studying the development of simple nervous systems and the aging process

17
Q

Danio rerio

A

Zebra fish Used for mapping and identifying genes involved in organ development

18
Q

Mis musculus

A

House mouse Commonly used to study genetic principles and human disease

19
Q

Rattus norvegicus

A

Brown rat Commonly used to study genetic principles and human disease

20
Q

mutant mice

A

inbred

  • make targets gene knock-outs ad knock ins
  • informed by genetic research
21
Q

how to make a mouse

A
  • order or design and produce modified ES cells (embryonic stem cells)
  • microinjection into fertilise oocytes in blastocyst stage
  • transfer to pseudopregnant females
  • birth of litter
  • breed chimeric offspring with wild-type mice
  • screen for germline transmission
  • expansion
22
Q

knockouts

A

performed to determine the physiological function of a gene- can model diseases- test treatments and reveal developmental roles

23
Q

knockins

A

introduce specific mutations

24
Q

SCID-NOD mouse

A
  • no immune system

- allows tissue grafting

25
Q

limitations of mutant mice

A
  • which strain are you using
  • what time of day do you do your experiments
  • do men o women perform the experiments
  • is your age clean
  • mice and not humans
26
Q

‘all models are..

A

bad- but some are useful’

27
Q

the cystic fibrosis mouse

A
  • CFTR gene clone in 1989
  • 1990 mouse produced bit its fine
  • need to use a knock out pig
28
Q

in CF in humans/pigs

A

ATPase upregulated- achica conditions inhibit immun e clearance
- as well as Cl- channels being close

29
Q

CF in mice

A

ATPase not unregulated

- cl- channels closed

30
Q

CRISPR

A
  • new gene editing tool
  • quick, chip
  • touted as a cure for hereditary and many other types of disease
31
Q

CRISPR is used to create

A

knock-out/ knock-in cells and mice models

32
Q

CRISPR is much more effective at knocking out genes than

A

designing your own embryonic stem cell