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Schizophrenia PPT For Edit
Schizophrenia PPT For Edit
and
Genetics
Presented by:
CHARLINE A. RADISLAO
Introduction
Symptoms
Negative Positive
A logia (abnormal speech) Hallucinations
Lack of interest in life Delusions
Poor in making decisions Bizarre behavior
Languages impairment Unusual thoughts
psychosis
• Research has largely excluded the possibility that genes of major effect
exist; linkage analysis has provided independently replicated evidence for
genes of moderate effect on several chromosomal regions.
• Those who have a third degree relative with schizophrenia are twice as
likely to develop schizophrenia as those in the general population.
• Following are two images that summarize the average risks for developing
schizophrenia for different groups of people.
• (The statistics in the two images vary slightly due to inclusion of different
study data).
family studies
family studies
Risk of Developing Schizophrenia (in percents) from
SCHIZOPHRENIA GENESIS
family studies
Genome-wide studies
Genome-wide studies
new findings promise new insights
If we were to summarize all of these data on an ideogram of the human
genome, they might look like this; to the right of the chromosome is an "S" for
schizophrenia susceptibility, a "B" for bipolar, and an asterisk (*) where both
types of disorders are mapped to the same location.
Candidate gene studies: gene studied
Candidate gene studies: gene studied
Brain-derived neurotrophic(BDNF) gene
Brain-derived neurotrophic(BDNF) gene
Brain-derived neurotrophic(BDNF) gene
Brain-derived neurotrophic(BDNF) gene
Brain-derived neurotrophic(BDNF) gene
Brain-derived neurotrophic(BDNF) gene
Epidermal growth factor(EGF)gene
Epidermal growth factor(EGF)gene
Epidermal growth factor(EGF)gene
Epidermal growth factor(EGF)gene
NOTCH4 gene
NOTCH4 gene
NOTCH4 gene
NOTCH4 gene
NOTCH4 gene
NOTCH4 gene
Catechol-o-methyltransferase(COMT) gene
Catechol-o-methyltransferase(COMT) gene
Catechol-o-methyltransferase(COMT) gene
Apolipoprotein E(APOE) gene
Apolipoprotein E(APOE) gene
Apolipoprotein E(APOE) gene
Apolipoprotein E(APOE) gene
Apolipoprotein E(APOE) gene
Genetics of Scizophrenia :DNA
variation
• Evidence for a substantial genetic contribution comes from family, twin and
adoption studies but the underlying causes and pathogenesis of the
disorder remains unknown.
• The past few years have witnessed marked progress in our understanding
of genetic risk at the level of DNA variation, which has been largely driven
by applying advanced genomic technologies to very large samples.
• There is evidence that risk variants occur across the full allelic frequency
spectrum, many of which are associated with other neuropsychiatric
disorders.
• de novo mutation,
Neurons that use the transmitter ‘dopamine’ fire too often and transmit
too many messages or toooften.
Certain D2 receptors are known to play a key role in guidingattention.
Lowering DA activity helps remove the symptoms ofschizophrenia
Etiology of Schizophrenia - Neurodevelopment
Model
• Neurodevelopmental model supposes in
schizophrenia the presence of “silent lesion” in the
brain, mostly in the parts, important for the
development of integration (frontal, parietal and
temporal), which is caused by different factors
(genetic, inborn, infection, trauma...) during very
early development of the brain in prenatal or early
postnatal period of life.
Environmental factors
HTR7a rs12412496
NCAM1 rs1943620, rs1836796, rs1821693,
rs646558, rs2303377
NEUROG1a rs2344485, rs2344484
NOTCH4a rs422951, rs520692, rs915894
PPP1R1Ba rs4795390, rs879606, rs907094,
rs3764352
RGS4a rs2661319, rs2842030
SLC18A1 rs1390938, rs2270637, rs2270641, rs17092104b
rs17092104
SLC6A3a rs11564773, rs6876225, rs2550936, rs11564773b, rs11564758b
rs6347, rs11564759, rs11564758,
rs2963238