1. Metabolic Disease dan Brain Disfunction
akibat Disregulasi Insulin Signaling Pathway
pada Penderita Down Syndrome
Kelompok 5
21120302 - Silmi Rahmani
21120310 - Nilamsari Kurniasih I.
2. Outline Pembahasan
Down Syndrome
Disease
Metabolic Disease pada
Down Syndrome
Insulin Resistence
Signalling in Down
Syndrome
Side Effect in
Down Syndrome
Treatment
You could describe the
topic of the section here
Conclusions
You could describe the
topic of the section here
01 02 03
04 05 06
5. Down Syndrome
Down Syndrome: merupakan kelainan
pada seseorang yang diakibatkan oleh
penambahan jumlah kromosom 21
https://www.cdc.gov/ncbddd/birthde
fects/downsyndrome.html
CIri Morfologi:
1. Brachychepalia (Kepala rata)
2. Mata kecil (epicantus)
3. Bentuk Gigi Abnormal
4. Lengan pendek
5. Tangan dan jari kecil
6. Leher Pendek
6. Disregulasi Gen Down Syndrome
• Down Syndrome Critical Region
(DSCR) memiliki regulasi
berlangsungnya penurunan serta
peningkatan ekspresi suatu gen
(Dierssen et al., 2020).
• Gen The -Dual Specificity Tyrosine
(Y)-Phosphorylation regulated Kinase
1 A (DYRK1A) proses
perkembangan otak, proses belajar
dan memori
• The regulator of Calcineurin 1
(RCAN1) signaling sel transpor
kalsium menjaga homeostasis,
pertmubuhan sel dan imun respon
• Gen pengkode enzim cystathionine
beta synthase (CBS) pada jalur
homocysteine/folate/
transsulfuration.
Sumber: https://www.aboutkidshealth.ca/Article?contentid=9&language=English
7. 1. Peningkatan kadar fenilalanin dan tirosin
2. penurunan kadar histidin, lisin, tirosin,
fenilalanin, leusin, isoleusin, dan triptofan
3. kadar leusin, isoleusin, sistein, dan
fenilalanin yang lebih tinggi pada usia yang
rentan terhadap perubahan Alzheimer
4. penurunan konsentrasi serine pada usia
berapapun
5. peningkatan konsentrasi lisin pada pasien
berusia di atas 10 tahun (Caracausi et al.,
2018).
Hipotesis “Leujeune Machine”
Hipotesis Leujeune Machine menggambarkan
bahwa metabolisme menjadi mesin mekanik
yang berperan sebagai poros pusat kinerja
tubuh
8. Komplikasi Down Syndrome
Gagal Jantung
Bawaan
Diabetes
Melitus
Diabetes tipe 1
dan tipe 2
Obesitas
Abnormal
Fungsi dan
Struktur Otak
Alzheimer,
Demensia,
Craniofacial
9. Komplikasi Down Syndrome
Gagal Jantung
Bawaan
Diabetes
Melitus
Diabetes tipe 1
dan tipe 2
Obesitas
Abnormal
Fungsi dan
Struktur Otak
Alzheimer,
Demensia,
Craniofacial
• Bahwa protein prekursor amiloid (APP)
pada membran integral di sinapsis sel
neuron menyebabkan peningkatan
ekspresi gen pengkode protein amiloid
beta (AB)-peptida menjadi toksik
• Protein AB dan menyebabkan
peningkatan reactive oxygen species
(ROS), peningkatan oxidative stress dan
menyebabkan excitotoxicity yang
mengganggu respirasi seluler dan fungsi
sinapsis
11. • RNAC1 meningkat ketidak
seimbangan Kalsium
• Defisit mitokondria pada sel Down
Syndrome
• Phosphofructokinase (PFK)
mengatur katalisis perubahan salah
satu substrat fosforilasi fruktosa-6-
fosfat menjadi fruktosa-1,6-bifosfat
• Disregulasi Mitokondria mengarahkan
pada kematian sel
Metabolic Disease
• Metabolic Disease adalah kelainan
yang terjadi dysfunction metabolisme
yang disebabkan oleh berbagai macam
faktor sehingga mempengaruhi
pembentukan ATP yang akan
digunakan sebagai sumber energi bagi
sel
12. ● Kadar Lemak meningkat
● Kadar Leptin meningkat insulin
menurun
● HSPA72 dan Galectine-3
menyebabkan tingkat inflamasi
merusak sel Pankreas
● Keadaan DS terjadi penurunan
ukuran sel B pancreas
13. Skema Metabolic Disease
• Disfunction
Hormonal
mempengaruhi
metabolism sel
• Peningkatan RCAN1
menyebabkan
peningkatan inflamasi
dan reaktif sistem imun
merusak sel B
pancreas insulin
menurun
• Menurunkan jumlah sel
B Pankreas
14. About the Disease
Venus has a
beautiful name
Mercury is the
smallest planet
Mars is actually a
cold place
Neptune is the
farthest planet
10% 30% 25% 50%
Mercury Venus Mars Neptune
16. Risk Factors
To modify this graph, click on it,
follow the link, change the data and
paste the resulting graph here
50%
58%
40%
36%
52%
58%
Saturn
Mars
Neptune
Jupiter
18. INSULIN
Insulin merupakan hormon yang diproduksi pankreas,
tepatnya oleh sel B di pulau Langerhans.
1
Insulin dan atau IGF1 mengikat reseptor insulin dan dan
mengaktifkan kaskade sinyal pada persinyalan insulin
2
Jalur pensinyalan insulin mengatur homeostasis glukosa darah
dalam tubuh dan mempengaruhi banyak regulasi seluler pada
berbagai jenis sel
3
20. Disregulasi sejumlah protein pada jalur persinyalan insulin
yang menyebabkan resistensi insulin otak
Disregulasi jalur persinyalan insulin yang menyebabkan resistensi insulin otak
pada penderita Down Sindrom dan Alzheimer
23. Pathology
Jupiter
Jupiter is a gas giant and
the biggest planet in the
Solar System
Saturn
Saturn is the ringed one.
It’s composed of
hydrogen and helium
Mercury is the closest planet to the Sun, but does its name have
anything to do with the liquid metal?
Venus
Despite its beautiful
name, its atmosphere is
poisonous
24. Diagnosis
Mercury
Mercury is the smallest
Venus
Venus is the second planet
Mars
Mars is a cold place
Jupiter
It’s the biggest planet
Saturn
Saturn has several rings
Neptune
Neptune is the farthest
27. Prevention
Venus
Despite being red, Mars
is actually a cold place
Saturn
Jupiter
Jupiter is a gas giant and
the biggest planet
Mars
Venus is the second
planet from the Sun
28. Results
Treatment Test 1 Test 2 Test 3
Group 1 254 458 213
Group 2
454 552 128
Group 3
454 457 445
Experiment A
Treatment Test 1 Test 2 Test 3
Group 1 180 154 320
Group 2
127 162 123
Group 3
635 130 110
Experiment B
32. References
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● AUTHOR (YEAR). Title of the publication. Publisher
● AUTHOR (YEAR). Title of the publication. Publisher
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Recommendations
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35. Research Conclusions
Mercury is the closest planet to the Sun and
the smallest one in the Solar System—it’s
only a bit larger than the Moon
Conclusions
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