MECP2 Duplication and Hope for Families

Описание к видео MECP2 Duplication and Hope for Families

This film is dedicated to all the families who are loving, struggling and living with this disorder. It is my hope that this film will result in funding, understanding and support for all of us out there who need it. With Love,
The Mendozas

Mecp2 duplication Syndrome is a neurodevolopmental disorder that affects the developing nerves system primarily the brain and causes various progressive problems throughout the life of the individual. In early life these individuals struggle with recurrent pneumonia and a tremendous struggle to develop fine and gross motor skills.

Mecp2 protein is ubiquitously expressed throughout all cell types in the body and it is expressed in large quantities in the nervous system and it plays an essential role in modulating genes. meaning how certain genes are turned on and off and what proteins our bodies make


There is a possibility that the function of the Mecp2 protein might be a downstream effector molecule or protein that could play a part in vastly larger number or percentage of diseases that we know or understand right now. Meaning that Mecp2 duplication, Rett, Autism and more diseases might be cured by changing how the mecp2 protein effects other molecules or proteins in the body.

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