Journal Club: Retinitis Pigmentosa

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Journal Club: Retinitis Pigmentosa

#1  Postby natselrox » Aug 03, 2010 1:53 pm

I haven't read it yet but plan to do it by tonight or tomorrow. The whole pdf is available from here.

The Abstract wrote:Retinitis pigmentosa refers to a diverse group of hereditary diseases affecting two
million people worldwide that lead to incurable blindness. As a common pathology,
rod photoreceptors die early whereas light-insensitive, morphologically altered
cone photoreceptors persist longer. It is unknown if these cones are accessible for
therapeutic intervention. We show that expression of archaebacterial
halorhodopsin in light-insensitive cones can substitute for the native
phototransduction cascade and restore their light sensitivity in mouse models of
Retinitis pigmentosa. Resensitized photoreceptors activate all retinal cone
pathways, drive sophisticated retinal circuit functions including directional
selectivity, activate cortical circuits, and mediate visually guided behaviors. Using
human ex vivo retinas we show that halorhodopsin can reactivate light-insensitive
human photoreceptors. Finally, we identified blind patients with persisting, lightinsensitive
cones for potential halorhodopsin-based therapy.


If anyone has read the thing and wants to start the discussion, feel free.
When in perplexity, read on.

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Re: Journal Club: Retinitis Pigmentosa

#2  Postby GenesForLife » Aug 03, 2010 3:37 pm

It appears, at first glance, that the pathology of retinitis pigmentosa involves the loss of receptor function through signalling cascades which no longer function due to the absence of functional rhodopsin, the abstract seems to indicate that adding in an archaebacterial rhodopsin restores the involved pathways and thus retinal function.

I may have a look at human rhodopsin and archaebacterial rhodopsin to see if there is a conserved domain common to both, it could be worth hypothesizing, if such a conserved domain is to be found, that such a domain is critical to the restoration of retinal function.
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Re: Journal Club: Retinitis Pigmentosa

#3  Postby ramseyoptom » Aug 03, 2010 9:11 pm

Well at least it is a start in finding a cure. I have several patients who would be delighted.
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Re: Journal Club: Retinitis Pigmentosa

#4  Postby Varangian » Aug 03, 2010 10:32 pm

ramseyoptom wrote:Well at least it is a start in finding a cure. I have several patients who would be delighted.


+1

It's a nasty condition; I had a patient earlier this year who got diagnosed with it.
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Re: Journal Club: Retinitis Pigmentosa

#5  Postby MedGen » Aug 04, 2010 6:04 pm

I've not read the article yet, but IIRC there are a number of genetic loci associated with RP, including several mitochondrial disorders. This suggest that there are multiple convergent pathways that can lead to ultimate loss of rod cell function, rather than a specific pathway involving rhodopsin function. Of course it may be one pathway that leads to the convergent phenotype of RP.
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Re: Journal Club: Retinitis Pigmentosa

#6  Postby natselrox » Aug 04, 2010 6:06 pm

I haven't read it yet. :oops:

As always, tomorrow sounds like a brilliant idea. :shifty:
When in perplexity, read on.

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