Schizophrenia Chromosomal Abnormalities Flashcards
DISC1 LOD SCORE
7.1 Largest recorded for psych disorder (Obtained from Schiz, bipolar, and recurrent major depression)
Chromosome 22q
associated with interstitial deletions that are prevalent in 1/4000 live births. Making it one of the most common genetic disorders. Schiz and bipolar disorder
22q11.22 associated with schizophrenia causing?
A structure difference. Disease related gene, low copy repeats, and common syndrome related deletions
Linkage study genes involved in schizophrenia
All have received Genome Wide Significants
RGS4
DISC 1 (Schiz.)
G72/G30
DTNBP
Schizophrenia positional candidate genes
DTNBP1
NRG1
G72
DISC1
COMT
RGS4
Specifics
Biological Pathways of Schizphrenia gene groups
G Protein couple receptor
neuronal calcium signaling
synaptic function and plasticity
neurodevelopment
Glutamatergic neurotransmission
SLC6A4
Most published in psychatry.
serotonin transporter
44 bp indel
Serotonin transporter gene (SLC6A4)
candidate genes for susceptibility to depression, as many antidepressant medications act on tcandidate genes for susceptibility to depression, as many antidepressant medications act on these systems. hese systems.
A 44-bp repeat polymorphism in the promoter region of the gene (5-HTTLPR) has been shown to influence expression levels of the serotonin transporter in vitro. This polymorphism is the most studied genetic variant in psychiatric genetics to date.
Brain-Derived Neurotrophic Factor (BDNF)
mood disorder
animal model suggest neurogenesis
decresead levels in hippocampus (can be treated with medication)
NO GWAS DONE
Has a dominent affect
(Val66Met) Polymorphism Alters Anxiety-Related Behavior
Neurotrophic mechanisms in depression and antidepressant action
increase in arberization and dendrite formation
* clearer diagnosis need for tests to have clearer significant power
