Question?: Rett Syndrome Research

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Chris asks…

Does anyone know why Rett Syndrome girls start off “normal” & then regress?

Okay I’m aware of what Rett Syndrome is & how it works (for the most part anyway) but what has me confused the most is that most of these girls develope normally for about the first 6-18 minths & then start to regress/lose skills they’ve already learned (i.e. talking, walking, eye contact) . I know this is due to a mutation in the MEPc2 gene but why/how is it they can learn things & then lose them later on. I relize the gene is responsible for turning on/off certian protiens but what is making these girls funtion properly in the beginning then? another gene maybe?

admin answers:

To quote a passage from wikipedia:
“The recent studies demonstrating that neurological deficits resulting from loss of MeCP2 can be reversed upon restoration of gene function are quite exciting because they show that neurons that have suffered the consequences of loss of MeCP2 function are poised to regain functionality once MeCP2 is provided gradually and in the correct spatial distribution. This provides hope for restoring neuronal function in patients with RTT. However, the strategy in humans will require providing the critical factors that function downstream of MeCP2 because of the challenges in delivering the correct MeCP2 dosage only to neurons that lack it, given that the slightest perturbation in MeCP2 level is deleterious. Thus, therapeutic strategies necessitate the identification of the molecular mechanisms underlying individual RTT phenotypes and picking out the candidates that can be therapeutically targeted. The next phase of research needs to assess how complete the recovery is. Clearly, lethality, level of activity, and hippocampal plasticity are rescued, but are the animals free of any other RTT symptoms such as social behavior deficits, anxiety, and cognitive impairments? Since postnatal rescue results in viability, it will be important to evaluate if even the subtler phenotypes of RTT and MECP2 disorders are rescued when protein function is restored postnatally. This is particularly important given emerging data about early neonatal experiences and their long-term effects on behavior in adults.”

What I get from that is that the nerves become damaged by the defective gene, resulting in a loss of abilities that have already been learned.

Sorry if you’ve already read this, but this is just about all I could find as far as the reason for the decline period.
Hope this helps!

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