Why is a mutation in the SHANK protein gene causing Autism spectrum disorder in recent decades?


SHANK3 is a protein with a role in absent to severely delayed speech. The gene encoding this protein is located on the terminal region of chromosome 22.  Dr Thomas Bourgeron and colleagues reported in 2007 in the journal Nature Genetics that even if a single copy of this gene is deleted,it can results in speech and communication disorders. This gene deletion occurs only in a small number of individuals, as is generally the situation in a search for a genetic cause for Autism Spectrum Disorders. However, it sheds some light to the pathway of such disorders.

The SHANK3 protein can form complexes with signalling molecules, cytoskeletal proteins and postsynaptic receptors. These proteins are also believed to be master organizers of postsynaptic density, which is important for normal communication.

Question to ask:One question to ask is if such a deletion is also found in the older relatives like grandparents or uncles of the children presenting with Autism Spectrum disorder. If the answer is yes, then the follow up question would be why is it only this generation presenting with such communication disorders? What other factors may be involved other than the presence of this gene deletion?

Please, contact Dr Thomas Bourgeron to encourage his team to continue researching this topic.
Correspondence: Thomas Bourgeron ; Email: thomasb@pasteur.fr
Génétique Humaine et Fonctions Cognitives Institut Pasteur de Paris, CNRS : URA2182, 25-28 rue du Docteur Roux
F-75724 Paris Cedex 15,FR

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One response to “Why is a mutation in the SHANK protein gene causing Autism spectrum disorder in recent decades?

  1. Pingback: Know your G proteins: relevant for Allergy, Autism, Aspergers and ASD | Pursue natural

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