How Mutations in the MECP2 Gene Cause Rett Syndrome | Rett Syndrome Research Trust

A paper was published on June 16, 2013, in Nature Neuroscience describing key steps in how mutations in the MECP2 gene cause Rett Syndrome. The paper describes two crucial domains in the protein: the well known methyl binding domain and the newly described NCoR/SMRT Interaction Domain (NID). Mutations in either of these domains cause Rett Syndrome. This work was done via the MECP2 Consortium in the labs of Adrian Bird at University of Edinburgh in collaboration with Michael Greenberg at Harvard Medical School.
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[@Lala-fd6cf]

I really like the narrator’s voice.. calm and soft

[@JasmineDCarter]

This is so clear and easy to understand! This PhD student THANKS YOU!!!

[@salvadorhirth1641]

If the mutation of Cytosine to Thymine is caused by inadvertent methylation of C, followed by spontaneous deamination, perhaps inhibitors of DNA C methyltransferase, like Decitabine, could slow down the disease. Also, maybe if the gene encoding the correct glycosilase could be expanded, maybe more repair enzymes could fix the mutation before it is permanent.

[@markaszkenasy7395]

Wonderfully clear! Thank you so much.

[@ziolove01]

Hi Monica, Can I get a English transcription for this video? This is a valuable material I want to share with other RTT parents in Korea.

[@qasimalvi334]

My question is that my daughter is diagnosed rett syndrom with svere cp and all physical disabilities of function she dont hv sens to do things by herself what test and how i start from which level . Don know what to do or not.

[@antoinesahab]

Thank you soo much

[@ReverseRettSyndrome]

Poland loves Monica Coenraads :) Ps. Still good job.

[@MrJusticex1]

wow, thank you, made it found easy

[@sfh2050]

Trofinetide & Blarcamesine as a possible solution?

[@jeewonryu5992]

if i had 100 thumbs-up function on KZbin, i'd be more than glad to give it 100 times

[@DrSRanjanMBBSAcupuncturist]

Epigenetics Medicine gives hope. Changing Environment can change expression of genes. - Dawson Church Book, 'The Genie in your genes' (2014) Foreword by Prof. Bruce Lipton Meditation, EFT & various other Energy Psychology techniques can improve quality of life.

[@DrSRanjanMBBSAcupuncturist]

Read books.google.com/books/about/Genie_in_Your_Genes.html?id=gemGDwAAQBAJ

[@CommunistReaper]

4:04 if you in bis183