Brains, the genome and medicine Flashcards

1
Q

Explain why the lack of dopamine leads to the symptoms of Parkinson’s diseases

A
  • parkinson’s disease is a brian disorder that affects motor skills
  • neurones that control movement are destroyed, these neurones usually produce dopamine, so losing those neurones causes a lack of dopamine
  • a lack of dopamine dopamine causes a decrease in transmission of never impulses involved in movement
  • synapses are not functioning
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2
Q

Suggest why L-dopa, rather than dopamine, is used for treatment of patients with Parkinson’s disease

A
  • dopamine cannot pass the blood brain barrier
  • l-dopa can be absorbed into the brain and converted into dopamine by enzyme dopa-decarboxylase, this increases dopamine levels
  • l-dopa is easier/cheap to make
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3
Q

Imaging technique that could be used to establish which parts of the brain have been damaged

A
  • MRI scanning (produces images in finer detail than CT)
  • it can produce 3D images
  • you could compare image to that of a normal brain
  • identify parts of brain and look and shape and size to see if it is abnormal
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4
Q

Explain the effects of nature and nurture on characteristics between identical twins brought up together and identical twins brought up apart

A
  • if there is no difference, it indicates that it is nature
  • if there is a difference, mainly due to environment
  • multifactorial, polygenic
  • examples, e.g. body mass - diet, exercise, intelligence - schooling, parental encouragement
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5
Q

Why the conclusions drawn from data from twin studies should be treated with caution

A
  • small sample size
  • different number of twins assessed
  • characteristics not measured using comparable units
  • difficult to measure intelligence
  • no comparison with rest of population
  • samples not matched by age, sex, culture, race
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6
Q

Define the term polygenic

A
  • characteristics controlled by more than one gene
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7
Q

If one monozygotic twin has a condition what is the probability of the second twin having the condition, if the condition is entirely caused by genes

A
  • identical twins are genetically identical

- 100%

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8
Q

What could a study show about the roles of genes and the environment of a condition

A
  • genes play a greater role than the environment in developing the condition or vice versa
  • genes are inherited
  • multifactorial condition, more than one factor causes the condition
  • environment has a small effect or vice versa
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9
Q

Why might there be low levels of neurotransmitter

A
  • neurotransmitter is re-uptaken into the presynaptic membrane by the a re-uptake mechanism
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10
Q

How drugs could affect neurotransmitter

A
  • increase transmitter synthesis
  • block re-uptake mechanism into presynaptic membrane so more transmitter remains in synaptic cleft
  • more transmitter to bind to receptors on post-synaptic membrane
  • more APs initiated in postsynaptic membrane
    OR
  • similar shape to transmitter
  • binds to receptors on postsynaptic membrane
  • APs continually generated
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11
Q

Effects of drugs/toxins on synapses

A
  • prevents neurotransmitter released from presynaptic membrane
  • similar shape to transmitter, blocks receptors on postsynaptic membrane
  • break down of transmitter
  • sodium channels open, permanent depolarisation or hyperpolarisation, continuous AP or no AP
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12
Q

Suggest how Parkinson’s disease can be treated using drugs

A
  • dopamine cannot cross blood brain barrier
  • L-dopa is used, which can cross blood brain barrier
  • L-dopa is converted into dopamine in the brain
  • other drugs could have a similar shape to dopamine and bind to dopamine receptors
    other drugs could inhibit enzymes which break down dopamine
  • maintaining a high concentration of dopamine
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13
Q

Explain why L-dopa is used to treat people with Parkinson’s disease

A
  • L-Dopa can pass blood brian barrier and reach brain
  • L-Dopa is converted to dopamine in brain
  • increases dopamine levels in the brain
  • Parkinson’s disease has low dopamine levels, reduces symptoms of disease
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14
Q

Explain how MDMA (ecstasy) could affect levels of serotonin in the brain

A
  • higher levels of serotonin
  • MDMA affects the serotonin synapses in the brain
  • MDMA blocks the serotonin re-uptake mechanism
  • synaptic cleft flooded with serotonin and cannot be returned to the presynaptic knob
  • may reverse pumps to release all the serotonin into the synaptic cleft
  • receptors on postsynaptic membrane always filled and floods the brain with impulses
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15
Q

Effects of ecstasy

A
  • increased heart rate
  • problems in the body’s thermoregulatory centre
  • desire to drink which can lead to hyperthermia (overheating)
  • hormone releases to stop kidneys from producing urine
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16
Q

Describe the steps that would need to be taken before a drug treatment could be used in humans

A
  • test on small sample of healthy individuals for safety
  • test on large sample of patients to test for effectiveness
  • clinical trials on larger sample (1000s)
  • double blind trials
  • placebo
  • representative sample, take into account sex and age
17
Q

Suggest why the injection of genes into body cells does not have a permanent effect

A
  • DNA degrades
  • modified cells die
  • modified cells removed by immune system
  • DNA lost from cells
18
Q

DIscuss the treatments for Parkinson’s diseases, including benefits and ethical issues

A
  • drug therapy, affects whole brain and difficult to get dose right
  • deep brain stimulation, target specific area of brain, relieves tremors, invasive procedure, long term side effects e.g. depression, short term side effects e.g. laughing
  • gene therapy, corrects chemical balance, precise group of cells affected, dangers of using virus as vector, ethical issues of genetic modification
19
Q

Compare the changes in brain chemistry that are linked to Parkinson’s disease with those that are linked to depression

A
  • both caused by lack of neurotransmitter
  • Parkinson’s is lack of dopamine
  • depression is lack of serotin
20
Q

Explain how a virus can introduce genes into specific cells

A
  • virus acts as vector
  • virus has specific surface proteins
  • match surface proteins of target cells
  • bind to surface protein promotes entry to cell
  • genes can be incorporated into host DNA
21
Q

Suggest factors that need to be accounted for the design of drug trials of drugs

A
  • representative sample, e.g. age and sex
  • sufficiently large sample
  • double blind testing
  • placebo
  • collecting separate data sets for males and females
  • other factors controlled/measured, e.g. socioeconomic, nutrition
  • safety issues, e.g. toxicity
  • consideration of time, e.g. between dose and observation, long term data
  • other models, e.g. animals, tissue culture
22
Q

How can the human genome project help us

A
  • sequencing of human DNA

- provides knowledge of human genetics

23
Q

Describe why genes are only partially responsible for the development of cancer and heart disease

A
  • lifestyle factors, environmental factors, e.g. carcinogens, diet, exercise, infections
  • genes may make it more likely
24
Q

Suggets reasons why inserting the correct gene into a cell may not be all that is required

A
  • gene needs to be expressed/switched on by transcription factors
  • in order to produce protein
  • transcription factors might not be present