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PSYT 500 > Lecture 4 > Flashcards

Lecture 4 Flashcards

1
Q

what is the timeline of onset of disorders from childhood, teen, adulthood, middle age and elderly?

A

childhood: neurodevelopment disorders like asd

teen: schizophrenia, eating disorders, MDD, anxiety disorders

adulthood: bipolar, anxiety MDD

middle age: bipolar, MDD

elderly: dementia, etc

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2
Q

what is the prevalence, male/female ratio and typical age of onset for eating disorders?

A

0.2%
30% male; 70% female
18yo

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3
Q

what is the prevalence, male/female ratio and typical age of onset for bipolar disorders?

A

0.6%
50:50
31 yo

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4
Q

what is the prevalence, male/female ratio and typical age of onset for dementia?

A

0.7%
30% male: 60% female
75yo

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5
Q

T/F: the appearance of anorexia is common in middle age?

A

false: peak is 15-20, then drastic drop

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6
Q

how does the sex rate differ in dementia at age 75 vs 85?

A

at 75, you have 2:1 female:male ratio

at 85, you have 8:1 female: male ratio

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7
Q

what is the DSM5 criteria for anorexia nervosa?

A
  1. restrictive energy intake resulting in significantly low body weight
  2. intense fear of weight gain or becoming fat or persistent behaviours that prevent weight gain
  3. body image disturbance (weight/shape) or persistent lack of recognition of the seriousness of their current low body weight
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8
Q
A
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9
Q

what are the two types of AN?

A

restricting type and binge-eating/purging type

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10
Q

whats the restricting type of AN?

A

weight loss is achieved through dieting, fasting and/or exercise with no evidence in the past 3mo of binge/purging

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11
Q

whats the bing-eating/purging type of AN?

A

weight loss is achieved through self-induced vomiting and the misuse of laxatives/diuretics

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12
Q

what are risk factors for AN? (9)

A
  1. female gender
  2. thin ideal society
  3. migrants from developing world
  4. urban areas
    5 increased genetic heritability/family history
  5. family leanness
  6. epigenetic changes following food deprivation
  7. low self-esteem
  8. child abuse
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13
Q

whats the advantage of twin studies?

A

assess the effect of environment in twins

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14
Q

what are genomic scans? (3)

A

identify variants that are more selectively given for one gene vs another

take large sample of people with the disease vs control

sequence entire genome OR pick common representatives

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15
Q

why do we need large number of cases/controls for GWAS? (2)

A

small sample sizes can produce results that aren’t replicable

Larger sample sizes allow for increased exploration into the mechanisms by which genetic variants influence psychiatric disorder risk, in the cell type(s) important for that particular disorder

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16
Q

Female relatives of individuals with AN are ____ times more likely to develop AN than relatives of individuals without AN.

A

11

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17
Q

what gene was identified from GWAS for AN? (3)

A

genetic polymorphism on chrom12

neuronal specific receptor thats involved in neuronal cell differentiation and proliferation

gene is also negatively associated with MBI and SNP

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18
Q

what are the psychosocial considerations associated with genetic findings? (4)

A
  1. individuals and their families have been blamed for the illness and a genetic explanation for eating disorders hold the attraction of having the potential to relieve the burden of blame associated with these conditions
  2. Genetic findings help validate and legitimize experiences that are often dismissed as “all in the patient’s head”
  3. they can inadvertently exacerbate guilt and fear/fatalism
  4. Presenting eating disorders as strictly genetic conditions does not reflect existing knowledge of the complex interplay of genetic and environmental factors
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19
Q

what are risk factors for bipolar disorder?

A
  1. increased genetic heritability/family history
  2. stressful events
  3. phobias, PTSD, ADHD, alcohol/drug abuse
  4. impulsivity
  5. suicidal ideation
  6. being caucasian
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20
Q

what can we deduce about the duration of bipolar disorder once the patient presents suicidal ideation?

A

its been there a long time

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21
Q

what are treatments for bipolar disorder?

A
  1. medication (good for 80%)
  2. psychotherapy
  3. ECT (last resort)
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22
Q

what are the symptoms of depression in bipolar disorder?

A
  1. feelings of sadness/hopelessness
  2. loss of interest
  3. negative thoughts abt the future
  4. loss of energy
  5. insomnia or sleeping too much
  6. talk of suicide/death
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23
Q

what are the symptoms of mania in bipolar disorder?

A
  1. poor concentration
  2. poor appetite (weight loss)
  3. sleeping little
  4. racing speech/impulsiveness
  5. jumping from one idea to another
  6. heightened sense of self-importance
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24
Q

Twin studies have yielded heritability estimates for BP ranges from ____ % with a mean of _____%.

Frequent co-morbidities: _____ risk factors

Also, _____ (4).

A

73-93%
85%
cardiovascular
adhd, impulse control, anxiety, substance abuse

25
Q

association studies found how many genome-wide significant polymorphisms?

A

30

26
Q

association within loci containing ______ and other voltage-gated calcium channel genes supports the rekindled interest in calcium channel antagonists as potential treatments for BD

Other genes within novel BD-associated loci include those coding for other _____ (SCN2A, SLC4A1), _____ (GRIN2A) and ______ (ODZ4, NCAN, RIMS1, ANK3).

A

CACNA1C;
ion channels and transporters;
neurotransmitter receptors;
synaptic components

27
Q

Many of the genetic risk factors (n=8) for BP turned out to be also associated with the risk for ____ but none were found to be associated with for____ and _____ symptoms.

A

schizophrenia; MDD; depressive

28
Q

A small number of polymorphisms display significant associations with ____, ____ and to a lesser extent, with _____.

A

asd; AN; anxiety disorders

29
Q

what is CACNA1C (risk factor for BP)?

A
  • calcium channel
  • found in caucasians
  • increases or decreases in brain of BD (unsure)
  • involved in axon guidance and synaptic transmission
30
Q

what is ODZ4 (risk factor for BP)?

A
  • transmembrane protein
  • regulates neuronal and synaptic connectivity during brain dev
  • dev and differentiation of oligodendrocytes and myelination in brain maturation
31
Q

what is NCAN (risk factor for BP)?

A
  • protein in EC space
    modulation of cell adhesion, migration and axon guidance
32
Q

what did Dr Alzheimer do?

A

described the First Lady who had AD

decided with his colleague to see how AD is from the inside (anatomy POV)

33
Q

what are the clinical features of AD?

A

Short Term Memory Impairment

Spatial Memory Impairment

Deterioration of Judgement

34
Q

which impairment is the reason behind removing driving license of people witH AD?

A

deterioration of judgement

35
Q

what are the pathological features of AD?

A

Neuronal Cell loss

Amyloid Plaques

Neurofibrillary Tangles

36
Q

what is the anatomical description of AD?

A

brown deposits in extracellular space (amyloid plaques → made of amyloid peptide)

neuron saturated with neurofibrillary tangles (phosphorylated version of Tau)

polymerizes in the neuron and forms deposits in the neuron and “chokes the neurons to death”, leading to massive cell loss

37
Q

what are the neuropathological correlates of AD? (6)

A

Synaptic and Neuronal Loss (e.g. NBM,EC)

Neurofribrillary tangles (intracellular)

Neuritic plaques with an amyloid core

Amyloid Angiopathy

Localised Inflammation

Marked Cortical Atrophy

38
Q

what are the lifestyle causes of AD? (7)

A

Hypertension
High Cholesterol
Hormonal Status
Diabetes
Obesity/ BMI
Apnea
Hearing Loss

39
Q

what are the environmental causes of AD? (3)

A

Head trauma
Smoking
education

40
Q

what are the genetic causes of Alzheimers?

A

chromosome 1, 14, 21 and 19

41
Q

what is the prevalence of the familial form of AD?

A

1-3% worldwide

42
Q

what are the genetic “causes” (chromosome + gene) of the familial form of AD?

A

Chromosome 11 (2018-2023)
- SORL1 (only a few families)
- APOB (only a few families)

Chromosome 1
- Presenilin 2 (only a few families)

Chromosome 14
- Presenilin 1 ( ~ 2% of all cases)

Chromosome 21
- Amyloid Precursor (only a few families)

43
Q

what are characteristics of the familiar form of AD?

A

VERY aggressive

die within 3-4 years - usually get it in your thirties

very dangerous, but predictable disease

44
Q

what 3 risk genes of familiar AD are involved in the same molecular cascade?

A

APP gene (chrom21), Presenilin 1 (chrom14), Presenilin 2 (chrom1)

45
Q

what is the APP gene?

A

amyloid precursor protein

core of deposits is amyloid

mutations in this gene leads to production to amyloid fraction called beta-amyloid
(very hypophillic but hates being in water → polymerase → plaque)

46
Q

what are the Presenilin genes?

A

molecular scissors that cuts the amyloid at the right place (BACE)

47
Q

what immunotherapy came out in 2023 to treat AD?

A
  • called Lecanemab
  • antibodies binds to fibrils and oligomers and brings the conc down to near zero (prevent accumulation of new plaques and begin to facilitate the degradation of existing plaques)
  • reduce disease progression by 30%
  • treatment causes stroke (in 30-40% of people)
    (bring them to monthly fMRI scan for 6m to make sure you won’t get a stroke)
48
Q

what is the sporadic form of AD? what’s its prevalence and heritability?

A

common form

95-98% of all AD cases

heritability: 70-80%

49
Q

what gene is present in 50-60% of all sporadic form AD cases?

A

apolipoprotein E4 allele

50
Q

what are the general functions of the risk genes for sporadic AD?

A

lipid transport, lipid internalisation, immune

51
Q

T/F: immunotherapy effectively treats the sporadic AD?

A

false

52
Q

is there a polymorphism in the APP gene in sporadic AD?

A

No: almost as if its a completely different disease from the aggressive disease

53
Q

know the APOE - HDL/cholesterol homeostasis of sporadic AD

A

slide 21

54
Q

what is required to get genetic tests for causative genes involved in familial form of AD?

A

genetic counselling and government paid

55
Q

genetic testing of which gene is performed routinely in nearly all clinical drug trials for common AD?

A

APOE4

56
Q

why might APOE testing be required for Lecanumab treatment?

A

since this with APOE4/4 genotype DO NOT respond to treatment (20% of all cases)

57
Q

the side effects of lecanumab include ___ and ____ and are found in __% of patients

A

brain edema; micro bleeds, 20

58
Q

what is a polygenetic score

A

74 genes put in one formula (algorithm)

polygenetic risk score → give you a score thats equivalent to your risk based on the 74 genes in the equation

together the 74 genetic variants account for no more than 35-40% of the genetic risk

59
Q

what do the colours represent in a mental map?

A

the darker the color, the stronger the genetic risk btw identified genes and the disease

in study: used 200,000 people with a bunch of disorders and looked at genetic variants that were common btw two diseases

schizo/bi-polar = strong genetic similarities btw these two

see a lot of convergence in genes of variants associated with mental illness

PSYT 500 (11 decks)

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