Presentacion Seminario Biologia Molecular
-
Upload
christian-sanchez-valencia -
Category
Health & Medicine
-
view
131 -
download
2
Transcript of Presentacion Seminario Biologia Molecular
![Page 1: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/1.jpg)
MUTATIONS IN DSTYK AND DOMINANT URINARY TRACT
MALFORMATIONS
C a r o l i n a C a r v a j a l M i r a n d a C h r i s t i a n S á n c h e z v a l e n c i a
U P B - Fa c u l t a d d e M e d i c i n aM e d e l l í n
S. Sanna-Cherchi, R.V. Sampogna, N. Papeta, K.E. Burgess, S.N. Nees, B.J. Perry,M. Choi, M. Bodria, Y. Liu, P.L. Weng, V.J. Lozanovski, M. Verbitsky, F. Lugani,R. Sterken, N. Paragas, G. Caridi, A. Carrea, M. Dagnino, A. Materna-Kiryluk,G. Santamaria, C. Murtas, N. Ristoska-Bojkovska, C. Izzi, N. Kacak, B. Bianco,
S. Giberti, M. Gigante, G. Piaggio, L. Gesualdo, D. Kosuljandic Vukic,K. Vukojevic, M. Saraga-Babic, M. Saraga, Z. Gucev, L. Allegri, A. Latos-Bielenska,D. Casu, M. State, F. Scolari, R. Ravazzolo, K. Kiryluk, Q. Al-Awqati, V.D. D’Agati,
I.A. Drummond, V. Tasic, R.P. Lifton, G.M. Ghiggeri, and A.G. Gharavi
![Page 2: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/2.jpg)
Introducción
![Page 3: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/3.jpg)
Urinary malformation: Alteration of the shape of the organs in the urinary tract caused by a development desorder.
23% of birth defects.
40-50% pediatric,7% of adult
cases(ESRD)
![Page 4: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/4.jpg)
![Page 5: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/5.jpg)
URINARY TRACT MALFORMATIONSKidney
o Renal agenesis: Unilateral, Kidney is either absent or
undeveloped.
o Renal hypoplasia: Small kidney with the other one larger than
normal
o Renal dysplasia and multicystic kidney:Normally only one kidney irregularly lobulated
mass of cysts.
o Ectopic kidney: Not ascend properly.
![Page 6: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/6.jpg)
URINARY TRACT MALFORMATIONSUreter and ureteropelvic
junction
Ureteral atresia:
Ureter may be absent or fail to extend to the bladder
Duplication of the ureter:
Most common,recurrent urinary tract infections.
Obstructed mega-ureter:
Obstruction at the ureterovesical junction.
![Page 7: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/7.jpg)
URINARY TRACT MALFORMATIONSBladder
Bladder exstrophy:
Absence of the anterior wall of the bladder, with ureters delivering urine into the lower abdomen.
Persistent urachus:
Draining umbilical sinus and can become infected.
Contracture of the bladder neck:
Causes reflux, bladder diverticula and irritable bladder.
![Page 8: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/8.jpg)
MUTATIONS IN DSTYK
This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death.
![Page 9: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/9.jpg)
DSTYK
kinase
ERK FGF-inducedtranscriptional activity
MALFORMATION
FG2
![Page 10: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/10.jpg)
Objetivo
![Page 11: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/11.jpg)
Identify independent mutations in DSTYK in patients with congenital abnormalities of the kidney and urinary tract.
![Page 12: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/12.jpg)
Materiales y métodos
![Page 13: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/13.jpg)
Genotipificacion:determina genotipo. Diferencias en movilidad de los fragmentos de ADN en geles, amplificación diferencial por PCR, o la hibridación.
Secuenciacion:determinación del orden de los nucleótidos en un oligonucleótido de ADN.
![Page 14: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/14.jpg)
Inmortalizacion de linfocitos: cultivos proliferación ilimitada + células mas renovación, mediante transformación por tto químico o una infección viral.
17 Miembros familiares
![Page 15: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/15.jpg)
Inmunohistoquimica: uso de anticuerpo , marcado enzima (sut. Visible) Test: ratones,1 riñon(3meces)
Inmunofluorescencia:anti-RIPS,FGF (Factor de Cto fibroblastico) FGF1,2,anti-acuaporina 2, anti-E-Cadherina
![Page 16: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/16.jpg)
Pez Zebra Knock down: modificacion para expresión reducida de genes insertando pequeños fragmentos u oligonucleótido con secuencia complementaria.
Morpholino------Bloquea DSTYK
![Page 17: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/17.jpg)
Western blot: detectar proteínas específicas en una muestra determinada
![Page 18: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/18.jpg)
Resultados
![Page 19: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/19.jpg)
![Page 20: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/20.jpg)
![Page 21: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/21.jpg)
![Page 22: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/22.jpg)
![Page 23: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/23.jpg)
![Page 24: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/24.jpg)
![Page 25: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/25.jpg)
![Page 26: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/26.jpg)
![Page 27: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/27.jpg)
![Page 28: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/28.jpg)
![Page 29: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/29.jpg)
![Page 30: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/30.jpg)
Discussion
![Page 31: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/31.jpg)
Reference What they said? Agree / Desagre
e
Schedl A.
“The development of the kidney and the urinary tract is orchestrated by a series of inductive signals between the metanephric mesenchyme and the ureteric bud, and any disruption of this reciprocal signaling results in developmental defects”.
Sanna-Cherchi S et
al
“The diversity of signaling pathways in nephrogenesis explains the significant locus heterogeneity of congenital abnormalities of the kidney and urinary tract”.
Bates CM.
“Different combinations of FGF ligands are expressed in the ureteric bud, metanephric mesenchyme, and renal stroma”.
Guillemot F et al
Engagement of the FGF receptor results in autophosphorylation and activation of the intracellular mitogen-activated protein kinase cascade, ultimately resulting in the production of pERK, the main effector of the FGF transcriptional program.
![Page 32: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/32.jpg)
Conclusions
![Page 33: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/33.jpg)
Its very important to know the changes that can happen to DSTYK gene because helps to diagnose abnormalities of the kidney and urinary tract.
The exome sequencing is an important tool for diagnosis in patients with genetic pathologies heterogeneous.The loss of fibroblast growth factor FGF and developmental defects in multiple organs is indicative of the presence of gene DSTYK.Any alteration in the signaling process that
induces renal embryonic tissue develops has as results pathological defect in the formation of this organ and routes of excretion.
1
2
3
4
![Page 34: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/34.jpg)
Mapas conceptuale
s
![Page 35: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/35.jpg)
![Page 36: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/36.jpg)
![Page 37: Presentacion Seminario Biologia Molecular](https://reader036.fdocuments.in/reader036/viewer/2022062420/55d6eda9bb61eb920d8b482b/html5/thumbnails/37.jpg)