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

exon 1 intron1 Exon 2 intron2

5 - - 3 promoter

Gene Structure

DNA - Gene

QWEYUWYSDJKKGASDEHHJDBATAATAADJKLRHWRAKUMAUMAINMUSIGUADKLUTLSDFJEURASKNDBAGKDENGANKAKAKAGUADTUOPIPQEAUHDJFIRPODBAGDIKDIDALAMKAMARAGGUADGJRUAAAVZXCNBSFHAJKRIWERJORYIODBAGARTIDAKMEMBUATBISINGSTOPPPPLAHUEYWIPHGDANMASDBJI

• 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 GeneticHeritability - Mono-, poli- genic

- Cancer- Skizophrenia- Asthma- DM- Coronary heart disease- Essential hypertension

- Peptic ulcers- Congenital heart disease- TBC

0 Trauma, toxicityEnvironment

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

• 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

• 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)