Study lends insight into brain disorders
University of Edinburgh College of Medicine News Apr 03, 2017
Fresh discoveries about a range of neurological disorders may inform the development of new therapies.
Scientists have revealed molecular details of the biological causes of an autism spectrum disorder that affects one in 10,000 girls  known as Rett syndrome  and related intellectual disabilities.
Their study helps show how flaws in key proteins can prevent the function of a neurological gene  known as MeCP2  which is linked to the conditions.
Their discovery sheds new light on molecular interactions needed for brain function and paves the way for the development of new treatments.
Scientists at the University sought to better understand how the MeCP2 gene binds with a key set of proteins  known as NCoR  in order to function properly.
They used a high intensity light beam to study frozen crystals of the proteins interacting, revealing their molecules in detail. This showed that flaws in NCoR or in MeCP2 can prevent these proteins from functioning normally.
The MeCP2 gene supports the function of neurons and other brain cells. In Rett syndrome, flaws in the gene lead to failure to support normal brain function in girls, leading to symptoms such as inability to speak, loss of limb control and small head size.
The research was published in the Proceedings of the National Academy of Sciences journal.
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Scientists have revealed molecular details of the biological causes of an autism spectrum disorder that affects one in 10,000 girls  known as Rett syndrome  and related intellectual disabilities.
Their study helps show how flaws in key proteins can prevent the function of a neurological gene  known as MeCP2  which is linked to the conditions.
Their discovery sheds new light on molecular interactions needed for brain function and paves the way for the development of new treatments.
Scientists at the University sought to better understand how the MeCP2 gene binds with a key set of proteins  known as NCoR  in order to function properly.
They used a high intensity light beam to study frozen crystals of the proteins interacting, revealing their molecules in detail. This showed that flaws in NCoR or in MeCP2 can prevent these proteins from functioning normally.
The MeCP2 gene supports the function of neurons and other brain cells. In Rett syndrome, flaws in the gene lead to failure to support normal brain function in girls, leading to symptoms such as inability to speak, loss of limb control and small head size.
The research was published in the Proceedings of the National Academy of Sciences journal.
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