GENE THERAPY
AN INTRODUCTION
Agustina Setiawati, M.Sc., Apt


2 sks 12 kali pertemuan
USIP 40%, UAS 40%, Tugas/Kuis 20%
DEFINITION
Terapi gen merupakan teknik yang digunakan
untuk membenarkan gen yang rusak yang
menyebabkan terjadinya suatu penyakit
What’s gene therapy?

I.
Imagine that you
accidentally broke one
of your neighbor's
windows.
Stay silent: no one will ever find
out that you are guilty, but the
window doesn't get fixed.
II. Repair it with some tape: not the
best long-term solution.
III. Put in a new window: not only do
you solve the problem, but also
you do the honorable thing.
So, if a flawed gene caused our
"broken window," can you "fix" it?
What are your options?
.
I.
II.
III.
Stay silent: ignore the genetic
disorder and nothing gets fixed.
Try to treat the disorder with drugs
or other approaches: depending
on the disorder, treatment may or
may not be a good long-term
solution.
Put in a normal, functioning copy
of the gene: if you can do this, it
may solve the problem!
DOGMA CENTRAL
DNA EUKARIOT
Eukaryotic Transcription
Cytoplasm
DNA
Transcription
RNA
RNA
Processing
mRNA G
Nucleus
G
AAAAAA
Export
AAAAAA
Disease that was cured by Gene Therapy
10
11
Pendekatan Terapi Gen
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

Memasukkan gen normal pada lokasi non-spesifik
Menghapus fungsi gen abnormal  terapi antisense
Memperbaiki fungsi gen abnormal melalui reverse-mutasi yg
selektif
What is reverse mutation?
Mutasi - mjd +
Mutant, inactive
+
+-
+
WT, active
Mutate + to +-
-+
WT, active
WT ? active
Same site revertant different site revertant
Prinsip Kerja Terapi Gen?
1.
Penelitian awal : menyisipkan gen normal ke
dalam genom utk menggantikan gen yg
rusak/abnormal
2.
Molekul pembawa (vektor) membawa gen
terapetik ke dalam sel target pasien.
3.
Vektor yg paling umum adalah VIRUS, yg dapat
memasukkan DNA/RNA ke dalam sel manusia
Keuntungan Terapi Gen
1. Memampukan manusia mempunyai anak tanpa
‘konsepsi’
2. Menyembuhkan penyakit berbahaya tanpa
menimbulkan rasa sakit.
3. Mencegah penyakit genetik berdasarkan sex/gender
4. Meningkatkan ‘penerimaan’ organ hasil transplantasi
Kelemahan terapy gen
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
Keamanan- resiko efek genetik detrimental
Berbahaya karena menimbulkan 'genetic
reductionism'
Type of Human Gene Therapy
1. Somatic Gene Therapy
In vivo & Ex vivo
2. Germline Gene Therapy
SOMATIC GENE THERAPY
“ Transfer material genetic to the body cells
except germline”
GERMLINE GENE THERAPY
“ Involve genetic modification of germ cells”
Any question?
THANK YOU