Genetics, Environment, and Human Development Flashcards

1
Q

When does an embryo become a foetus?

A

8 weeks

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2
Q

What is the last area of the cortex to be myelinated and what is its role?

A

Prefrontal cortex

Decision-making, planning, inhibition

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3
Q

Name some genetic factors that can affect brain development

A

Improper cell division
Single gene defect
Recessive gene defect
Gene variant that predispose to diseases

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4
Q

Name some environmental factors that can affect brain development

A

Teratogens - cause birth defects
Retinoic acid
Epigenetics
Alcohol/drugs of abuse

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5
Q

What are the positive symptoms of schizophrenia?

A

Delusions
Hallucinations
Thought disorder

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6
Q

What are the negative symptoms of schizophrenia?

A

Social withdrawal
Anhedonia
Lack of drive and speech

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7
Q

Which pathway is implicated in the negative symptoms of schizophrenia?

A

Mesocortical

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8
Q

Which pathway is implicated in the positive symptoms of schizophrenia?

A

Mesolimbic

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9
Q

What are the neurological symptoms of schizophrenia?

A

Catatonia
Eye tracking problems
Problems with blinking and eye focusing

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10
Q

What are the brain abnormalities in schizophrenia?

A

Enlarged ventricles - loss of brain cells
Abnormal prefrontal cortex
Abnormal medial temporal lobes
Medial diencephalon

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11
Q

What is the evidence for the heritability of schizophrenia?

A

Adoption studies - scz adults adopted as children more likely to have scz biological relatives
Twin studies - concordance rate higher for MZ twins than DZ - not 100% - environmental component
Certain mutations predispose - mutagenic disease

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12
Q

What is the role of the Disc1 gene?

A

Maturation and integrations of neurons in NS

Binds to microtubules along axon and synapse - prevents arborisation

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13
Q

What are the effects of Disc1 downregulation?

A

Accelerated neuronal integration - neuron mis-positioning - aberrant morphology
Accelerated dendritic development and synapse formation - larger spines
Increased neuronal excitability

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14
Q

Name 3 other genes that may be involved in schizophrenia

A

Neuregulin-1
Reelin
Neurexin-1

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15
Q

How does lack of early maternal care affect later stress response in rats and humans?

A

Methylation of promoter for Nr3c1 - encodes glucocorticoid receptor (GR) - NGF1-A TF cannot bind
Decreased GR expression into adulthood

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16
Q

How does lack of early maternal care affect later synaptic connectivity in mice?

A

Decreased REST expression
Decreases Grin2B expression - promoter for GluN2B subunit
Decreases GluN2B - changes NMDAR subunit composition

17
Q

What is the role of REST?

A

Transcriptional repressor - of GluN2B - NMDAR subunit - via epigenetic remodelling

18
Q

How do high doses of alcohol affect the brains of young people?

A
Permanent decrease in pre-frontal cortex volume
Inhibits neurogenesis
Affects pruning of connections
Affects myelination
Affects synaptic maturity
19
Q

What are the symptoms of foetal alcohol syndrome?

A
Small head
Characteristic facial features
Developmental and mental retardation
Poor memory
Attentional deficits
Impulsive behaviour
20
Q

What is the direct effect of alcohol in FAS?

A

Cytotoxic - causes superoxide production

21
Q

What is the effect of alcohol on cell adhesion in FAS?

A

Inhibits L1 protein - inhibits cell adhesion

22
Q

What are the effects of an L1 mutation?

A

Mental retardation, developmental abnormalities

23
Q

What are the effects of alcohol on retinoid metabolism in FAS?

A

Inhibits retinal dehydrogenase - reduced conversion of retinol to retinal to retinoic acid
Retinoic acid regulates developmental genes