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Metabolic Disease dan Brain Disfunction
akibat Disregulasi Insulin Signaling Pathway
pada Penderita Down Syndrome
Kelompok 5
21120302 - Silmi Rahmani
21120310 - Nilamsari Kurniasih I.
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
Article Review
Enter a subtitle here if you need it
Down
Syndrome
Disease
01
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
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
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
Komplikasi Down Syndrome
Gagal Jantung
Bawaan
Diabetes
Melitus
Diabetes tipe 1
dan tipe 2
Obesitas
Abnormal
Fungsi dan
Struktur Otak
Alzheimer,
Demensia,
Craniofacial
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
Metabolic Disease pada
Down Syndrome
02
• 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
● 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
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
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
A PICTURE IS
WORTH A
THOUSAND
WORDS
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
Disfungsi Insulin Signaling Pathway
pada Down Syndrom
03
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
Jalur Persinyalan Insulin
Nat Rev Neurol. 2018 Mar; 14 (3): 168–181.
Nat Rev Mol Cell Biol. 2018 Jan;
19(1): 31–44.
& beragam aksi seluler
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
50,000
Key Numbers
5,000
Mars
Neptune
Saturn
200,000
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
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
Treatment
Mars
Despite being red, Mars is
actually a cold place
Venus
Venus has a beautiful name,
but it’s very hot
30% 58%
Enter a subtitle here if you need it
About the
Disease
03
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
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
Diagnosis
04
Enter a subtitle here if you need it
750,000
Total world cases
Mercury
Jupiter
Mercury is the
smallest planet
Jupiter is the
biggest planet
Prevalence
References
● AUTHOR (YEAR). Title of the publication. Publisher
● AUTHOR (YEAR). Title of the publication. Publisher
● AUTHOR (YEAR). Title of the publication. Publisher
● AUTHOR (YEAR). Title of the publication. Publisher
● AUTHOR (YEAR). Title of the publication. Publisher
● AUTHOR (YEAR). Title of the publication. Publisher
Our Team
Dr. Jenna James
You can replace the
image on the screen
Dr. James John
You can replace the
image on the screen
Dr. John Smith
You can replace the
image on the screen
1. You can describe what the
patient shouldn’t do here
1. You can describe what the
patient shouldn’t do here
1. You can describe what the
patient shouldn’t do here
1. You can describe what the
patient should do here
2. You can describe what the
patient should do here
3. You can describe what the
patient should do here
Recommendations
What to Do
What to Avoid
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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Presentasi Biosel 2.pptx

  • 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
  • 4. Enter a subtitle here if you need it Down Syndrome Disease 01
  • 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
  • 15. A PICTURE IS WORTH A THOUSAND WORDS
  • 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
  • 17. Disfungsi Insulin Signaling Pathway pada Down Syndrom 03
  • 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
  • 19. Jalur Persinyalan Insulin Nat Rev Neurol. 2018 Mar; 14 (3): 168–181. Nat Rev Mol Cell Biol. 2018 Jan; 19(1): 31–44. & beragam aksi seluler
  • 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
  • 21.
  • 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
  • 25. Treatment Mars Despite being red, Mars is actually a cold place Venus Venus has a beautiful name, but it’s very hot 30% 58%
  • 26. Enter a subtitle here if you need it About the Disease 03
  • 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
  • 29. Diagnosis 04 Enter a subtitle here if you need it
  • 31. Mercury Jupiter Mercury is the smallest planet Jupiter is the biggest planet Prevalence
  • 32. References ● AUTHOR (YEAR). Title of the publication. Publisher ● AUTHOR (YEAR). Title of the publication. Publisher ● AUTHOR (YEAR). Title of the publication. Publisher ● AUTHOR (YEAR). Title of the publication. Publisher ● AUTHOR (YEAR). Title of the publication. Publisher ● AUTHOR (YEAR). Title of the publication. Publisher
  • 33. Our Team Dr. Jenna James You can replace the image on the screen Dr. James John You can replace the image on the screen Dr. John Smith You can replace the image on the screen
  • 34. 1. You can describe what the patient shouldn’t do here 1. You can describe what the patient shouldn’t do here 1. You can describe what the patient shouldn’t do here 1. You can describe what the patient should do here 2. You can describe what the patient should do here 3. You can describe what the patient should do here Recommendations What to Do What to Avoid
  • 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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