2. A polygenic disorder causes abnormality in
neurotransmission, plasticity and synapse
development.
80% heritability.
Over 100 genes have been identified.
6. Schizophrenia Genes
Neuregulin (NRG 1)
It is a growth factor involved in neuron growth
and synaptic plasticity.
Increase Neuregulin signaling suppress NMDA
receptor leading to lowered glutamate level.
8. Schizophrenia Genes
DISC1/Disrupted in Schizophrenia 1
Interacts with PDE4B which decreases cyclic
AMP level
cAMP is important for learning, memory and
mood.
9. Schizophrenia Genes
miR-137: A microRNA which regulates other
genes
ZNF804A: Zinc Finger Protein 804A is a
transcription factor.
MHC region: Immune hypothesis of
schizophrenia
10. Schizophrenia Genes
C4: Increase activation of Complement
component 4 in schizophrenia leads to
abnormality in synaptic pruning.
VIPR2 duplication: Decrease VIP concentration
in lymphocyte of schizophrenia.
Neorexin (NRXN1) deletion: Synapse formation.
11. Schizophrenia Genes
Gene Name of Gene/Product Note
CACNA1C L type calcium channel @
subunit
Important in neuronal
function
Brugada Syndrome
DAO D Amino Acid Oxidase Enzyme which degrades
the NMDA receptor co-
agonist D-serine.
Expression and activity
increased in schizophrenia
DRD2 Dopamine D2 receptor Key target of antipsychotic
drugs
ERBB4 Receptor Tyrosine Kinase
erbb4
Receptor for neuregulin 1
GRIN2A NMDA Receptor subunit 2 Influences properties of
the NMDAR, including
synaptic localization and
channel conductance.
13. Implication in treatment
Genetic counseling
CACNA1C (Calcium Voltage-Gated Channel
Subunit Alpha1 C) associated with sudden
cardiac death
Comorbidity: Epilepsy (15q11) ASD,
Microcephaly (16p11)
14. Implication in treatment
Nonsteroidal anti-inflammatory drugs,
omega-3 fatty acids, and statins.
Available anticytokine atlizumab, monoclonal
antibody(infliximab, etanercept, and
alimumab) are currently in use.
15. Periodic catatonia
Frequently recurring catatonic episodes with
intervening phases of remission.
2/3rd are female
Age before 20
Family history of psychotic illness present
18. Pathophysiology
Blockade of postsynaptic D1 and D2 receptor
Glutametergic dysfunction
Decrease GABA-A binding
Thyroid Dysfunction causing abnormality in
BMR
WKL1 (Leu309met) and KCNA1 genes are
associated with it.
19. Difference with systematic catatonia
Rapid onset
Lasts for 4-10 days
Recurs within weeks to year
Seasonality
Better prognosis than catatonia