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11/1/2018 KMA 2010 1

Aspek Genetik Gangguan
Fungsi luhur dan Keswa
Kiagus Muhammad Arsyad
Bagian Biologi Kedokteran
Fakultas Kendokteran Unsri
PYRAMIDA MILLER =
LEVEL KOMPETENSI

SHT KMA kelainan endokrin pada pria 3

SHT KMA kelainan endokrin pada pria 4
TUJUAN PEMBELAJARAN
 Agar mahasiswa pada akhir kuliah mampu
mengetahui dan memahami tentang :
1. Faktor genetik yang terkait dengan
fungsi luhur dan kesehatan jiwa
2. Kaitan faktor genetik dengan otak
untuk fungsi luhur dan kesehatan jiwa
MATERI PEMBELAJARAN
1. Pendahuluan
2. Faktor Genetik pada fungsi luhur
dan Kesehatan Jiwa
3. Penutup
 1.PENDAHULUAN
 KESEHATAN

 Healthy = sound and whole in mind and body, being

without physical pain or disease.

 Health :
The normal physical state, i.e. the state of being
whole and free from physical and mental disease or
pain, so that all parts of body carry on their proper
function,
(Butterworths Medical Dictionary)
1. PENDAHULUAN
 DEFINISI SEHAT

 WHO (1950) :
Health is a state of complete physical, mental and
social well being and not merely the absence of
disease or infirmity.

 Indonesia (UU Kes Nas No.23/1992 :

Kesehatan adalah keadaan sejahtera dari badan,
jiwa, dan sosial yang memungkinkan setiap orang
hidup produktif baik secara sosial dan ekonomi.
TIGA FAKTOR PENENTU SEHAT

JASMANI
MEN SANA
IN CORPORA
SANO

SEHAT

SOSIAL MENTAL/
ROHANI
 1. PENDAHULUAN
GANGGUAN
BIOLOGIS PENYAKIT

GANGGUAN
PSIKOLOGIS

SAKIT

GANGGUAN
SOSIAL

MODEL UNTUK MENJELASKAN TERJADINYA SAKIT (ENGEL 1977)

 1.PENDAHULUAN
 fungsi kehidupan manusia dikendalikan oleh OTAK.

 Otak bagaikan pusat pemerintahan yang mengendalikan

seluruh wilayah yang menjadi otoritasnya.

 Mulai dari menangani informasi yang masuk lewat panca

indera, memahaminya, menganalisa, membuat keputusan,
sampai pada merespon lewat gerakan anggota tubuh, semua
itu diperintah lewat mekanisme otak.

 Bahkan, rasa senang, sedih, gembira, mencintai, dan

berbagai perasaan kemanusiaan, semua juga berada dan
bersumber di otak manusia
1. PENDAHULUAN
 Pertanyaannya, kalau begitu apakah Jiwa kita
berada di otak itu? Atau bahkan, jangan-jangan, ya
otak itu yang disebut Jiwa?

 kerusakan sel-sel otak bisa menyebabkan Jiwa

seseorang terganggu bahkan mengalami kegilaan.

 dengan memahami mekanisme kerja OTAK akan

dapat dipahami tentang fungsi otak terhadap
fungsi luhur dan kesehatan jiwa
 1. PENDAHULUAN
 While showing an impressive growth
prenatally, the human brain is not completed
at birth.
 There is considerable brain growth during
childhood with dynamic changes taking place
in the human brain throughout life, probably
for adaptation to our environments.
BAGIAN DARI OTAK

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C

Par
Au

14
 PENDAHULUAN
• Otak mulai berkembang sejak masa embryo
• Pada saat lahir  25% otak orang dewasa
• Usia 2 tahun  70 - 80% otak orang dewasa
• Usia 5 tahun  hampir sama dengan orang
dws

Ascobat Gani 13 11 12
 PENDAHULUAN
Grafik pertumbuhan otak anak sampai usia 5 th
Investasi terlambat, hasil
Investasi tepat waktu tidak optimal

100%

80%
Pertumbuhan otak

“loss generation”

lahir 2 th 5 th bbu
mur

ascobatgani

* Stunting 35 % ??
Ascobat Gani 13 11 12
 FUNGSI LUHUR
 FUNGSI YANG MEMUNGKINKAN MANUSIA DAPAT MEMENUHI
KEBUTUHAN JASMANI DAN ROHANI SESUAI DENGAN NILAI
MORAL YANG BERLAKU
 TERDIRI DARI :
1. KOGNISI (Fungsi Pengenalan/Pengertian)
2. MEMORI (Fungsi Ingatan/Belajar)
3.BAHASA (Fungsi Komunikasi Verbal/non verbal)
4. EMOSI (Perasaan yang kompleks, emosi dasar :rasa senang,takut ?)
5. VISUOSPATIAL (?)
 MERUPAKAN HASIL PENGOLAHAN FUNGSI KORTIKAL
(KORTEKS), DIMANA TIAP BAGIAN KORTEKS BERINTEGRASI BAIK
ANTAR LOBUS DALAM SATU HEMISFER MAUPUN ANTAR
HEMISFER
2. FAKTOR GENETIKA
 Mempelajari pewarisan sifat
 Genetika = Keeping the faith
 Gene > genome >> prediktif
 Khromosom = Seks Khromosom+
autosom
2. FAKTOR GENETIKA
 A genetic disorder is a condition caused by
abnormalities in genes or chromosomes.
 the term "genetic disease" most commonly
refers to diseases present in all cells of the
body and present since conception.
2. FAKTOR GENETIKA
 3 macam penyakit genetik :

1. Inherited genetic disease

2. Somatic genetic
3. Chromosomal disorders
2. FAKTOR GENETIKA

Khromosom dan DNA

 2. FAKTOR GENETIKA
PHENOTYPE
GENE GENOTYPE • Ciri Fisik
• Fungsi Luhur
• Keswa

ENVIRONTMENT
FAKTOR2 YG BERKORELASI MEMPENGARUHI KESEHATAN
2. FAKTOR GENETIKA:
 several terms in biological psychiatry that are
important to understand:
 Genotype:
A person's genotype is the sum total of the
genetic material transmitted from his or her
parents.
2.1.DEFINISI GENOTYPE

 GENOTYPE: konstitusi genetik

individu, bisa pada semua loci atau
yang khas, locus tunggal
2.1. GENOTYPE
 genotype dari makhluk adalah instruksi yang
diturunkan yang dibawa dengan kode genetiknya.

 Tidak semua makhluk yang sama genotype

kelihatan atau berkerja dengan cara yang sama,
karena penampilan dan perilaku dimodifikasi oleh
lingkungan dan kondisi perkembangan.

 Sebaliknya tidak semua makhluk memiliki

genotype yang sama.
 several terms in biological psychiatry that
are important to understand:

 Phenotype:
A person's phenotype is the observable signs,
symptoms, and other aspects of his or her
appearance.
 The term is also used sometimes to refer to a
person's outward appearance and behavior as these
result from the interaction between the person's
genotype and his or her environment.

 2.2. DEFINISI PHENOTYPE
 PHENOTYPE : ekspresi genotype yang dapat diamati baik
sebagai ciri/ trait atau penyakit,

 Phenotype = a trait exhibited by an allele that

distinguishes one individual from another (round vs.
wrinkled)
 A phenotype is the physical trait or feature of an organism
that is the effect of a particular genotype.
 Ada homozygot dan Heterozygot
 2.2. VARIASI PHENOTYPE
 Variasi Phenotype (akibat adanya variasi genetik
herediter) merupakan persyaratan dasar untuk
terjadinya evolusi secara alamiah.
 Natural selection mempengaruhi struktur genetik
populasi secara tidak langsung via kontribusi
phenotype.
 Tanpa adanya variasi phenotype, tidak mungkin
adanya evolusi secara natural selection.
 2. FAKTOR GENETIKA
ENVIRONMENT :
1. INTERNAL
2. EXTERNAL

GENE MUTATION
ABNORMAL
PHENOTYPE
POLYMORPHISM
 several terms in biological psychiatry that are
important to understand:
 Behavioral phenotype:
The concept of a behavioral phenotype is used most often with
reference to patterns of behavior found in certain
developmental disorders of childhood, such as Down
syndrome or Prader-Willi syndrome.
 Behavioral phenotype refers to the greater likelihood that
people with a specific genetic syndrome will have certain
behavioral or developmental characteristics compared to
people who do not have the syndrome; it does not mean that
every person diagnosed with a given genetic syndrome will
invariably develop these characteristics.
DEFINISI : Perubahan Susunan Nukleotida DNA

JENIS : Mutasi Titik

Delesi
Insersi
AKIBAT : t.a.a
Fungsi
Fungsi
Tak berfungsi (inactivated)
LOKASI : Sel benih  Peny. Keturunan
Sel Somatik  Kanker
DNA Mitokondria
(menimbulkan penyakit yang diwariskan garis
keturunan ibu)
Gene  phenotypic effect
Regulatory Cell-cell
genes interactions

Hormones,
gene-product
interactions

DNA Effect Effect Effect on

(Gene) RNA Protein on cell on organism
tissue

Environmental Effect on
effects organism

CENTRAL
DOGMA Effect on
organism
 2. FAKTOR GENETIKA Protein

ONE GENE ONE ENZYME ONE MANIFESTATION

POLYGENE POLY ENZYME POLY MANIFESTATION

POLYMORPHISME
 MENTAL DISORDERS AND GENE
 Mental disorders almost always involve more than one
gene.
 Studies have shown that one mental disorder can be caused
by different genes on different chromosomes in different
populations.
 For example, one study in the late 1980s found two genes
on two different chromosomes among two populations that
caused manic depression. Studies of schizophrenia done in
the late 1980s and early 1990s revealed the same finding—
different genes on different chromosomes produced
schizophrenia in different populations.
 MENTAL DISORDERS AND GENE
 Genes associated with mental disorders do not
always show the same degree of penetrance , which
is defined as the frequency with which a gene
produces its effects in a specific group of people.
 Penetrance is expressed as a percentage. For
example, a gene for manic depression may have
20% penetrance, which means that 20% of the
members of the family being studied are at risk of
developing the disorder.
 MENTAL DISORDERS AND GENE
 Genetic factors in mental disorders interact with a
person's family and cultural environment.
 A person who has a gene associated with
susceptibility to alcohol abuse, for example, may
not develop the disorder if he or she grows up in a
family that teaches effective ways to cope with
stress and responsible attitudes toward drinking.
Penyakit Fungsi Luhur dan Keswa dengan
faktor genetik
1. Schizophrenia
2. Alzheimer’s diseases
3. Huttington’ s diseases
4. Post Traumatic Syndrome
5. Anxiety disorders
6. Behavior’s trait
TUGAS TULIS KELOMPOK
 Genetic contributions to human brain
morphology and intelligence
 While showing an impressive growth
prenatally, the human brain is not completed
at birth. There is considerable brain growth
during childhood with dynamic changes
taking place in the human brain throughout
life, probably for adaptation to our
environments.
 Childhood developmental disorders
 Developmental disorders of childhood are another
large category of mental disorders caused by
mutations, deletions, translocations
(rearrangements of the arms of chromosomes) and
other alterations in genes or chromosomes.
 Childhood developmental disorders
 Examples of behavioral phenotypes are those
associated with Down, Prader-Willi, and Williams
syndromes.
 Children with Down syndrome have an increased
risk of developing early-onset Alzheimer's disease.
They are usually quiet and good-tempered, but
may also be hyperactive and impulsive. Their
behavioral phenotype includes delayed language
development and moderate to severe mental
retardation.
 POST-TRAUMATIC SYNDROMES.
 Researchers have found that some persons are more vulnerable
than others to developing dissociative and anxiety-related
symptoms following a traumatic experience.
 Vulnerability to trauma is affected by such inherited factors as
temperament as well as by family or cultural influences; shy or
introverted persons are at greater risk for developing post-
traumatic stress disorder (PTSD) than their extroverted or
outgoing peers. In addition, twin studies indicate that certain
abnormalities in brain hormone levels and brain structure are
inherited, and that these increase a person's susceptibility to
developing acute stress disorder (ASD) or PTSD following
exposure to trauma.
 ANXIETY DISORDERS
 It has been known for some time that anxiety disorders
tend to run in families. Recent twin studies as well as
the ongoing mapping of the human genome point to a
genetic factor in the development of generalized
anxiety disorder (GAD). One study determined the
heritability of GAD to be 0.32.
 Genetic epidemiology
 Genetic epidemiology is the branch of medicine
that investigates the incidence and prevalence of
genetic disorders in specific populations.
Researchers in this field make use of specific types
of studies in order to assess the relative importance
of genetic and environmental factors in families
with a history of inherited disorders.
 Twin studies
 Adoption studies
 Family studies
 POLA CORTEX OTAK
 To the extent that most psychiatric disorders involve a
variety of brain dysfunctions, the use of brain oscillations
may provide the most informative phenotypes or
endophenotypes (intermediate phenotypes).
 Brain oscillations provide a rich source of potentially
useful endophenotypes for psychiatric genetics as they
represent important correlates of human information
processing and cognition.
 These quantitative biological markers (endophenotypes)
serve as covariates that correlate with the main trait of
interest (psychiatric diagnosis) and serve to better define
that trait or its underlying genetic mechanism
Lobus dari Cerebrum
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Central sulcus

Parietal lobe

Occipital lobe
Frontal lobe
Insula
Retracted
temporal lobe

(c)

48
Daerah Fungsional Cotex Cerebri
• Cerebral cortex
• Thin layer of gray matter that constitutes the outermost portion of
cerebrum
• Contains 75% of all neurons in the nervous system

Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
Central sulcus
Motor areas involved with the control
Sensory areas involved with
of voluntary muscles
cutaneous and other senses

Concentration, planning,
problem solving

Frontal eye field

Parietal lobe
Auditory area
Sensory speech area
Front lobe ( Wernicke’s area)

Occipital lobe
Motor speech area
(Broca’s area) Combining
visual images,
visual recognition
Lateral sulcus
of objects
Visual area
Interpretation of auditory patterns
Cerebellum

Temporal lobe Brainstem 49

Fungsi lobus lobus Cerebrum Lobes

50
 Sensory Areas (post-central sulcus)
• Cutaneous sensory area • Sensory area for taste
• Parietal lobe • Near base of the central
• Interprets sensations on sulcus
skin • Sensory area for smell
• Arises from centers deep
• Visual area within the cerebrum
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

• Occipital lobe Motor areas involved with the control

Central sulcus

Sensory areas involved with

• Interprets vision
of voluntary muscles
cutaneous and other senses

Concentration, planning,
problem solving

Frontal eye field

Parietal lobe
Auditory area

• Auditory area Front lobe

Sensory speech area
( Wernicke’s area)

• Temporal lobe Motor speech area

Occipital lobe

• Interprets hearing (Broca’s area) Combining

visual images,
Lateral sulcus visual recognition
of objects
Visual area
Interpretation of auditory patterns
Cerebellum

Temporal lobe Brainstem

51
 Motor & Sensory Areas
Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Trunk Pelvis Trunk

Arm Neck Pelvis
Thigh
Forearm Forearm Arm Thigh

Thumb,
Leg
fingers, Hand, fingers,
and hand and thumb Leg

Upper Foot and

Foot and face toes
Facial
toes
expression Genitals
Lips

Salivation Teeth and

Vocalization gums
Mastication
Tongue and
Swallowing pharynx

Longitudinal Longitudinal
fissure fissure
(a) Motor area (b) Sensory area

Frontal lobe

Motor area

Sensory area

Central sulcus Parietal lobe

52
 Area area Motorik (pre-central sulcus)

• Primary motor areas

• Frontal lobes
• Control voluntary muscles Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Central sulcus
Motor areas involved with the control

• Broca’s area
Sensory areas involved with
of voluntary muscles
cutaneous and other senses

Concentration, planning,

• Anterior to primary motor problem solving

Frontal eye field
Parietal lobe

cortex Auditory area

Sensory speech area
( Wernicke’s area)

• Usually in left hemisphere

Front lobe
Occipital lobe
Motor speech area

• Controls muscles needed (Broca’s area)

Lateral sulcus
Combining
visual images,
visual recognition
of objects

for speech Interpretation of auditory patterns

Visual area

Cerebellum

• Frontal eye field Temporal lobe Brainstem

• Above Broca’s area

• Controls voluntary
movements of eyes and
eyelids
53
 A. Cerebrum (hemispherium)-Lanjutan 4
8. Area assosiasi: meliputi sebagian besar cortex cerebri
dan berhubungan dengan proses belajar atau
inteligensia. Ada 3 area utama yaitu: frontalis,
temporalis dan parieto-occipitalis
a. Belajar (cara terbaik dan paling sederhana dalam
memecahkan masalah).
Secara anatomi dan fisiologi, belajar adalah:
 penggunaan berbagai jalur sinaptik untuk
memecahkan masalah.
 terjadi di area assosiasi cortex cerebri.
 membutuhkan memori

Dr MBA 54
 Association Areas
• Regions that are not primary motor or primary sensory areas
• Widespread throughout the cerebral cortex
• Analyze and interpret sensory experiences
• Provide memory, reasoning, verbalization, judgment, emotions

Copyright © The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
Central sulcus
Motor areas involved with the control
Sensory areas involved with
of voluntary muscles
cutaneous and other senses

Concentration, planning,
problem solving

Frontal eye field

Parietal lobe
Auditory area
Sensory speech area
Front lobe ( Wernicke’s area)

Occipital lobe
Motor speech area
(Broca’s area) Combining
visual images,
visual recognition
Lateral sulcus
of objects
Visual area
Interpretation of auditory patterns
Cerebellum

Temporal lobe Brainstem

55
POLA CORTEX OTAK
POLA CORTEX OTAK
POLA CORTEX OTAK
POLA CORTEX OTAK
 PENUTUP
 Faktor genetik pada gangguan fungsi luhur dan
kesehatan jiwa dapat berperan sebagai faktor yang
diturunkan atau akibat pengaruh lngkungan internal
dan eksternal yang mempengaruhi gene dan
selanjutnya fenotype
 Faktor genetik dapat berupa monogenenik , polygenik
dan endogenik dengan manifestasi yang beragam
(polymorphism)
 TUGAS TULIS
 Gangguan Fungsi Luhur :
1. Penyakit Alzeimer
2. Autism

 Gangguan Kesehatan jiwa :

1. Schizophrenia
2. Psikoneurosis
3. psikosis
 DAFTAR RUJUKAN
1. Kendler,K.S. Psychiatric Genetic : A metodologic
critique, Am.J. Psychiatry,162.1,2005.
2. Thompson,P.,et al., Genetic influences on brain
structure,Nature neuroscience, vol.4, no 12
december 2001.
3. Breigleiter,H,Porjesz,B,Genetic on Human Brain
oscillaton,Int.J.,Psychophysiology,162:171,2006
4. Cari sendiri
Allah, tidak ada Tuhan {yang berhak disembah) melainkan Dia Yang Hidup kekal lagi terus menerus
mengurus (makhluk-Nya); tidak mengantuk dan tidak tidur. Kepunyaan- Nya apa yang di langit dan di
bumi. Tiada yang dapat memberi syafa'at di sisi Allah tanpa izin-Nya. Allah mengetahui apa-apa yang di
hadapan mereka dan di belakang mereka, dan mereka tidak mengetahui apa-apa dari ilmu Allah
melainkan apa yang dikehendaki-Nya. Kursi Allah meliputi langit dan bumi. Dan Allah tidak merasa
berat memelihara keduanya, dan Allah Maha Tinggi lagi Maha Besar.(Surat Al-Baqarah:255 )