Penyakit Genetik dan Degeneratif

Human Genetik Diseases
S. Yudha Patria
FK UGM
Penyakit Genetik ?
Genetic disease is
• a disease that is caused by an abnormality in
genetic component
• an illness caused by abnormalities in genes or
chromosomes
• Abnormalities can range from a small
mutation in a single gene to the addition or
subtraction of an entire chromosome or set of
chromosomes
Kromosom Normal pada Manusia
Laki-laki
Perempuan
DNA
Gene Structure
exon 1
5-
intron1
Exon 2 intron2
-3
promoter
DNA - Gene
QWEYUWYSDJKKGASDEHHJDBATAATAADJ
KLRHWRAKUMAUMAINMUSIGUADKLUTL
SDFJEURASKNDBAGKDENGANKAKAKAGU
ADTUOPIPQEAUHDJFIRPODBAGDIKDIDAL
AMKAMARAGGUADGJRUAAAVZXCNBSFH
AJKRIWERJORYIODBAGARTIDAKMEMBUA
TBISINGSTOPPPPLAHUEYWIPHGDANMAS
DBJI
• Genetic disease could be presented from
before birth or after birth
• The disorders could be inherited or not, has
specific pattern of inheritance or uncertain
• Most genetic disorders are quite rare and
affect one person in every several thousands
or millions
• Syndrome: A pattern of multiple anomalies
though to be pathogenetically related and not
known to represent a single sequence or a
polytopic field defect
Relative correlation genetic and environment spectrum
%
100
Heritability
Genetic
- Mono-, poli- genic
- Cancer
- Skizophrenia
- Asthma
- DM
- Coronary heart disease
- Essential hypertension
- Peptic ulcers
- Congenital heart disease
- TBC
0
Trauma, toxicity
Environment
Cabang Genetika
• Genetika umum  analisis silsilah, pola pewarisan, dll
• Genetika kedokteran  genetika klinis, tatalaksana
penyakit genetik, dll
• Genetika molekuler  mutasi, perubahan susunan
gena, patofisiologi penyakit, dll
• Genetika populasi  variasi, genetic flow, dll
• Genetika rekayasa  kloning, terapi gen, dll
• Dll
Type of genetic diseases
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Chromosomal
Monogenic
Polygenic and multifactorial
Mitochondria
 Mendelian / Non mendelian
 Hereditary/ Nonhereditary
Sindrom Down
Sindrom Patau (trisomi 13)
Penyakit phenylketonuria (PKU)
Akondroplasia
Poligenik, Multifaktorial
Duchenne Muscular Dystrophy
Some Examples of Degenerative Diseases
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Amyotrophic Lateral Sclerosis (ALS), e.g., Lou Gehrig's Disease
Alzheimer's disease
Parkinson's Disease
Multiple system atrophy
Niemann Pick disease
Atherosclerosis
Progressive supranuclear palsy
Cancer
Tay-Sachs Disease
Diabetes
Heart Disease
Keratoconus
Inflammatory Bowel Disease (IBD)
Prostatitis
Osteoarthritis
Osteoporosis
Rheumatoid Arthritis
Huntington's Disease
Chronic traumatic encephalopathy
Penyebab Penyakit Degeneratip
• Genetik  mutasi gen
• Gizi
 kekurangan atau kelebihan zat gizi
• Lifestyle
 Genetik + lingkungan sbg penyebab utama
(lifestyle diseases)