Tag Archives: Mecp2

Question?: Rett Syndrome

John asks…

Why are diseases that are found to be curable/reversible in mice?

not in humans?

Serious answers only please.

Asking b/c Rett Syndrome ( a devastating neurological disorder) was completely reversed in mice like 3 years ao & I don’t understand why the same basic concepts that made that possible can’t be used in living humans suffering from this horrible disease

OCTOBER IS RETT SYNDROME AWARENESS MONTH
Care Today-Cure tommorow !

admin answers:

Great question and thanks for posting about Rett Syndrome and helping raise awareness!

In the experiments on mice (1 1/2 yr ago) they silenced the MECP2 in the mice (with insertion of a “stop cassette”), and then un-silenced it to see if the effects would be permanent like they believed they would be. So the mice didn’t actually have Rett Syndrome and in RS there is no “stop cassette” built into it to turn on again. So the real outcome of this study showed that once a cure/treatment is found, these girls could possibly be normal again and not neurologically damaged permanently…this is amazing in itself but doesn’t mean we are any closer to a cure.

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Question?: Rett Syndrome

Betty asks…

What can you tell me about Rett syndrome in Males?

I’m writing something and I want the main character to be a teenage older brother who’s 8 year old little brother suffers from Rett Syndrome, and I want to know what kind of effects the disorder can have in boys and what siblings can do about it.

admin answers:

Yes boys can live to 8 years old. Http://www.mecp2duplication.com/cms/

MECP2 Duplication Syndrome is the same thing as Rett Syndrome, but is found in boys. Http://www.rsrt.org/rett-and-mecp2-disorders/mecp2-duplication-syndrome/

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Question?: Autism Symptoms 18 Months

Lizzie asks…

how often is rhetts syndrome misdiagnosed as autism?

My daughter who is now 32 months old was diagnosed w/a profound case of autism at 18 months old, I do know something is wrong w/her but i do second guess her diagnoses because there seems to be something more but none of the doctors seem to agree with me and think i’m crazy, i’m just not sure.

admin answers:

Hello Hillry…..Since your daughter was diagnosed at age 18 months with profound autism, it was most probably the most logical diagnosis her doctors could find for her unusual behavior patterns and impaired development. Rett Syndrome, while not common—-but neither is it what I would call “rare” is often not considered as a differential diagnosis at that age. It’s just “easier” to call it “autism”….but the truth of the matter is that Rett Syndrome progresses in stages, and in its very early stage (called Stage I or early onset) very closely resembles a constellation of signs and symptoms associated with autism. Now that your daughter is older, and I suspect she is demonstrating other symptoms that concern you, I would encourage you to persist with her doctors, asking that a genetic test be performed, specifically on the X chromosome where the MECP2 gene is located. Rett Syndrome is caused by a mutation or alteration of this gene.
Over the years of practice, I have learned that if “MOM” thinks there is something wrong with her child, chances are she’s Right! So please request that this genetic test be run and put your mind at ease.

I hope this helps some. I wish you and your daughter well.

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