Summary
Summary of schizophrenia
- Institution
- University Of The Freestate (UFS)
Summary of schizophrenia - phenotype, endophenotype, genes
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The endophenotype for schizophrenia include symptoms of abnormalities in cognitive function andattention, social oddness and motor clumsiness. However, these are only a risk indicator if they are
seen from an early age and the individual has first-degree relatives with the disorder. Schizophrenia
is difficult to diagnose, as it can have overlapping symptoms with other psychological conditions. A
diagnosis is not made until different medications have been tried and it is establish what works and
what doesn’t.
The genetics of schizophrenia is also very complex, but twin studies have proven that genetic
predisposition plays a large role.
Perinatal influences have been identified – viral infection in the second trimester, anoxia – these can
be a further indicator of schizophrenia, but these influences do not only lead to schizophrenia but
could for example lead to ADHD or autism.
Genome Wide Association studies have identified regions of interest on chromosomes 1, 2, 15, 22,
where individuals with schizophrenia have certain CNVs (copy number variants, DNA regions that
are found in different numbers of copies) that differ from control groups.
There is also the “Dopamine Hypothesis” – even though many neurotransmitters may be involved in
the phenotype, most anti-psychotic medications work on the dopamine system, which have proven
effective in relieving the symptoms of schizophrenia. We do not know for sure whether defects in
this system is what causes schizophrenia as dopamine, noradrenaline and serotonin all compensate
for each other. Testing this hypothesis is difficult, as the necessary parts to investigate – namely the
transcriptional profile ( post-transcriptional modifications of Dopamine receptor D2, splice sites and
pre- and postsynaptic receptors) – changes after death, and the relative brain tissue is too deep in
the brain and can’t be studied while the person is alive.
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