losing sight and vision how does the eye work? what is retinitis pigmentosa? bioinformatics: life in...
TRANSCRIPT
![Page 1: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/1.jpg)
Losing sight and visionHow does the eye work?
What is retinitis pigmentosa?
Bioinformatics: life in the computer – basic variant
![Page 2: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/2.jpg)
Seeing
What can we see?
![Page 3: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/3.jpg)
How many tints do you see?
1
1
2
2
3 4
4 4
4 65 5
![Page 4: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/4.jpg)
Spiral or separate circles?
![Page 5: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/5.jpg)
How does the eye work?
![Page 6: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/6.jpg)
Cone and rod cells
![Page 7: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/7.jpg)
Bar and rod cells
Test:• Keep the paper strip close to your eyes.
With the orange dot in the middleLook with both eyes at the orange dot.
• Close your right eye. Now look with your left eye at the red dot.
• Move the paper strip slowly away from you. Keep looking with your left eye at the red dot!
• What do you see?The middle dot appears on a given in your view. But now it is grey! Only when you the paperstrip further away it suddenly flashes on orange.
?
![Page 8: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/8.jpg)
Zooming inFrom organism to molecule
In (almost) every cell DNA is located
DNA is the blueprint of a protein.
The shape and function of proteins are responsible for the the function of organels and cells.
The cells determine how the tissue works, how the organ functions and ultimately how the entire organism is alive.
![Page 9: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/9.jpg)
Retinitis PigmentosaRP is an eye disease in which the cone cells (the cells that display
contrast) are damaged. Most RP-patients complain about night blindness which can transcend into total blindness.Bron: erfelijkheid.nl
Practical
![Page 10: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/10.jpg)
Lets get to work!• Log in on the computer.• Go to this website:
www.bioinformaticaindeklas.nl/lesmateriaal/rp/rp.html• Click on ‘Start practical’ in the menu• Follow the instructions on the screen• Write down your answers on the answersheet.
• Compare genes• Find mutations• Alter the 3D stucture of a protein
What are we going to do?
![Page 11: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/11.jpg)
Functioning of the eye
Retinal is activated by light.Active retinal procedes a signal to the brain
Sight!
![Page 12: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/12.jpg)
Functioning of the eye
sight!
Due to some mutations in rhodopsine, retinal does not have enough space to bend.Therefore no signal can be transferred to the brain
![Page 13: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/13.jpg)
Retinal in rhodopsine
![Page 14: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/14.jpg)
Retinal in rhodopsine
This is the inactive retinal.During activation of retinal the molecule becomes straight.
The helices alter their conformation by bending slightly
![Page 15: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/15.jpg)
Mutations in rhodopsine: Ser186Pro, Ala292Glu en Lys296Glu
296296296296
292292292292
186186186186
![Page 16: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/16.jpg)
Mutations in rhodopsine: Met207Arg
![Page 17: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/17.jpg)
Conclusion
Is it still possible to activate retinal?
Does the unborn child have Retinitis Pigmentosa?
![Page 18: Losing sight and vision How does the eye work? What is retinitis pigmentosa? Bioinformatics: life in the computer – basic variant](https://reader035.vdocument.in/reader035/viewer/2022062715/56649d975503460f94a80760/html5/thumbnails/18.jpg)
Statement
Retinitis Pigmentosa becomes really disturbingwhen you turn older (35+).
Do you want to know in this stage your life if you are a carrier of this disease?
And how about knowing susceptibility for cancer?