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Sajjad Razzaq Hussien Ali Muntather adnan

2nd medical students

2nd medical students
Osama Ahmad
Hussien Sadran
DISC – 1 Genetic
Mutation
Supervise by :Dr.Shahad

http://www.free-powerpoint-templates-design.com
Agenda Style
Definition
01 What is DISC -1 ?
What

Schizophrenia
02
Bipolar
03
Depression
04
DISC-1;;;;;
Genetic
Disease
Schizophrenia
Schizophrenia, like many other common
diseases, is complex and multifactorial, with
contributions from multiple susceptibility genes,
epigenetic, stochastic, and environmental
factors.1 Family and twin studies have shown
that genetic factors play a major role in the
development of schizophrenia, and a number of
candidate risk genes.
DISC1 has captured much attention, not only being associated
with schizophrenia but also predisposing individuals to a wide
range of major mental disorders. Through genetics, cell biology,
animal modeling, and neuroimaging, the DISC1 pathway is
emerging as a pivotal mediator of quantitative and pathological
brain dysfunction
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The Differences
Manic episodes Major depressive disorder
( hypomanic episodes) ( unipolar depression )

Hopeless & discouraged

Energetic 1 1

Overly happy / optimistic 2 2 Lack energy & mental

focus

Euphoric 3 3 Physical symptoms like :

Eating
High self - esteem Sleeping
( to little or too much )
Your Picture Here

Manic episodes
( hypomanic episodes )
This seems positive right ?
Sometimes individuals in a full manic episode
these symptoms can reach a dangerous
extreme
That person might invest all off their money in
a risky business or they can do something
recklessly , they can talk constantly at rapid –
fire pace
Sometimes they might feel that they are on a
personal mission from god or that they have
supernaturnal power…
 Mixed episodes
Sometimes, people with Bipolar disorder can show other, less common
symptoms as well :
For example having what are referred to as mixed episodes—experiencing
symptoms of both depression and mania at the same time.
Another symptom they might have is rapid cycling, which describes a situation
where a person has 4 or more episodes of depression or mania within a given
year.
 The Cause

Like most mental health conditions, the exact underlying cause

of bipolar disorder isn’t known
But it’s thought that there are genetic and environmental factors
that play a part
For example, one interesting clue is that people with family
members who have bipolar disorder are 10 times more likely to
have it themselves.
It’s also worth mentioning that people with bipolar disorder often
have other disorders like anxiety disorders, substance use
disorders, ADHD, and personality disorders as well, making
diagnosis and treatment a real challenge.
.
 Treatment
One of the oldest treatments is also one
of the most effective treatments, and
that’s lithium salts.
Lithium acts as a mood stabilizer—
smoothing out the highs and lows they
experience.
That said, it is much better at treating
manic rather than depressive episodes,
and so individuals who take it often
have to take other medications as well,
which can be problematic since some
antidepressants (like the SSRIs) can
trigger manic episodes in individuals
who are predisposed to them.
 Other treatment options include antipsychotics,
anticonvulsants, and benzodiazepines, but many of
these—including lithium—have side effects that can
be severe and lead to non-adherence which can be
dangerous for an individual.
Therapy are not particularly effective in treating the
manic episodes of bipolar disorder (unlike certain
disorders like unipolar depression, psychological
interventions )
 Clinical implications
• Aberrations of DISC1 are considered a generalized risk factor in major psychiatric diseases
• DISC1 translocation increases the risk of developing schizophrenia, bipolar disorder, or major depression
by about 50-fold in comparison to the general population
• In 2008, a genetic screen of 97 Finnish families affected by autism and Asperger’s syndrome revealed
repeated DNA sequences within the DISC1 gene in those diagnosed with autism
• a single nucleotide change in the gene was found to be present in 83% of family members with Asperger’s
syndrome
• Asperger syndrome (AS), also known as Asperger's, is a developmental disorder
characterised by significant difficulties in social interaction and nonverbal
communication, along with restricted and repetitive patterns of behavior and
interests.[6] As a milder autism spectrum disorder (ASD), it differs from other
ASDs by relatively normal language and intelligence.[11] Although not required
for diagnosis, physical clumsiness and unusual use of language are common.
[12][13] Signs usually begin before two years of age and typically last for a
person's entire life.

• Autism is a developmental disorder characterized by difficulties with social

interaction and communication, and by restricted and repetitive behavior.[4]
Parents often notice signs during the first three years of their child's life.[1][4]
These signs often develop gradually, though some children with autism
experience worsening in their communication and social skills after reaching
developmental milestones at a normal pace.
 Refrences
^ Blackwood DH, Fordyce A, Walker MT, St Clair DM, Porteous DJ, Muir WJ (Aug 2001). "Schizophrenia and
affective disorders--cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-
expressed genes: clinical and P300 findings in a family". American Journal of Human Genetics. 69(2): 428–33.
doi:10.1086/321969. PMC 1235314. PMID 11443544.

^ St Clair D, Blackwood D, Muir W, Carothers A, Walker M, Spowart G, Gosden C, Evans HJ (Jul 1990).
"Association within a family of a balanced autosomal translocation with major mental illness". Lancet.
336(8706): 13–16. doi:10.1016/0140-6736(90)91520-K. PMID 1973210.

^ a b c Sullivan PF, Kendler KS, Neale MC (Dec 2003). "Schizophrenia as a complex trait: evidence from a
meta-analysis of twin studies". Archives of General Psychiatry. 60 (12): 1187–92.
doi:10.1001/archpsyc.60.12.1187. PMID 14662550.

^ a b c Millar JK, James R, Brandon NJ, Thomson PA (2005). "DISC1 and DISC2: discovering and dissecting
molecular mechanisms underlying psychiatric illness". Annals of Medicine. 36 (5): 367–78.
doi:10.1080/07853890410033603. PMID 15478311.

^ Nakata K, Lipska BK, Hyde TM, Ye T, Newburn EN, Morita Y, Vakkalanka R, Barenboim M, Sei Y, Weinberger
DR, Kleinman JE (Sep 2009). "DISC1 splice variants are upregulated in schizophrenia and associated with risk
polymorphisms". Proceedings of the National Academy of Sciences of the United States of America. 106 (37):
15873–8. doi:10.1073/pnas.0903413106. PMC 2736903. PMID 19805229.
Thank You
For listening