Genetics and Neurodevelopment

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What is meant by Heritability?
The proportion of total variance between individuals in a given population due to genetic variation: Not Inheritance
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SNIPs
Alters code but doesnt change meaning
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Mutation
changes but completely changes meaning
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Duplcation
Can make harder/impossible to read
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Deletion
Make it harder/impossible to read
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Family studies
Began in 1916, feeble mindedness ran in families
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Limitations
No control groups: Environments are similar between family members
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Maudsley twin study
1940s individuals who registered for treatment at maudsley hospital
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how many personal interviews?
106 patients
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Showed what correlation?
MZ: .81 and DZ: .31
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Finnish twin study
Looked at centralised hospital records 1969-1991 508 patients hospital records Showed correlation in monozygotic twins = .84 in dizygotic twins = .34
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Oregon Adoption study
50 children born to women with schizophrenia – adopted within 3 days of birth- no contact- matched to adopted children parents with no record of psychiatric admittance 10.6% rate of schizophrenia- same rate as found in people reared by parents with
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Danish study
34 adoptees hospitalized for schizophrenia , 34 control adoptees and all biological and adoptive relatives taken from Danish records for Copenhagen
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What rate was found?
first degree biological relatives was 7.9% compared to .9% in controls. No schizophrenia in adoptive relatives
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Sharing genes but not environment is what/
10 x higher risk. Sharing environment but not genes no increased risk
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What are limitations?
adoptive parents are often matched by adoption agencies so very similar environment. Adoptive parents are not representative of population – higher SES, lower rates of drug and alcohol use
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What are SNPs?
Single nucleotide polymorphisms a single nucleotide alteration in genetic code
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What are association studies?
Do not have to be same family can either investigate a few candidate genes based on specific hypothesis, investigate the whole genome using thousands of marker loci
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What pathways to SNPs and CNVs converge in?
Glutamate signalling, immune functioning, dopamine signalling, synaptic plasticity
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What is VCF caused by
Genetic disorder missing part of chromosome 22q11
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What does it cause?
Cleft palate, heart defets and distinctive features
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What is the prevalence of schizophrenia?
25 times that in normal population
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What is the 2 hit hypothesis?
Involving genes (hit one) and environment (Hit 2)
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What can environment be?
Pre-natal, post natal, immune challenge, adverse social environment, drugs
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What was found about eye movements in schizos?
The tracing made by the schizophrenia patient is significantly more irregular than that produced by the control participant, suggesting low gain pursuit with frequent catch-up saccadic eye movements
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What happens to hippocampal cells?
Cellular disarray in hippocampus of schizos
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Seasonality?
More people born in winter and spring = schizophrenia
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Months and start after epidemic
5 months more schizophrenic births
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What is a risk factor for development of schizo?
Pre-natal maternal infection is a risk factor for development of the disorder- human studies
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What is there evidence from?
Immune abnormalities in blood and central NS of patients
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What happens in first trimester?
Neurulation, neurogenesis, initiation of haematopoiesis
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What happens in second semester?
Migration of immune stem cells and expansion of progenitor cells
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What happens over 2nd and 3rd trimester?
Neural migration, apoptosis, synaptogenenesis, mylination and colonisation of immune cells
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Stages of prenatal to schizophrenic individual
Maternal immune activation secondary to infection: flu, T, genital reproductive, autoimmune disorders --> cytokine release --> aberrant fetal programing --> Increased brain and peripheral cytokines --> 3 symptoms of schizo
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What is Polyriboinosinic–Polyribocytidilic used for?
mimic viral exposure because it elicits immune responses similar to those observed during viral infection, most notably by inducing the release of proinflammatory cytokines
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What happens to latent inhibition after 90 days?
Disrupted but reversed by antipsychotic haloperidol
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Other cards in this set

Card 2

Front

SNIPs

Back

Alters code but doesnt change meaning

Card 3

Front

Mutation

Back

Preview of the front of card 3

Card 4

Front

Duplcation

Back

Preview of the front of card 4

Card 5

Front

Deletion

Back

Preview of the front of card 5
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