Insight into cause of brain disorders may aid quest for treatments

March 27, 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 of Edinburgh 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, published in the Proceedings of the National Academy of Sciences, was funded by the Wellcome Trust, Rett Syndrome Research Trust and the Medical Research Council.

Dr Matthew Lyst, of the University of Edinburgh's School of Biological Sciences, who took part in the study, said: "Improved understanding of Rett syndrome and related conditions are useful for designing drugs that may allow us to intervene in these processes and treat these conditions. This is strong evidence linking the processes behind Rett syndrome to those of other intellectual disorders, and identifies avenues for further research into brain function."

University of Edinburgh

Related Rett Syndrome Articles from Brightsurf:

Proteins -- and labs -- coming together to prevent Rett syndrome
Two labs investigated whether the disruption of one protein's condensate-forming ability contributes to Rett syndrome.

Genetic editing milestone in mouse model of Rett Syndrome
A genomic error that causes Rett Syndrome, a serious lifelong neurological disorder, can be corrected in the brains of mice by rewriting the genetic instructions carried by the RNA.

Yale researchers find potential treatment for Rett Syndrome
An experimental cancer drug can extend the life of mice with Rett Syndrome, a devastating genetic disorder that afflicts about one of every 10,000 to 15,000 girls within 6 to 18 months after birth, Yale researchers report June 10 in the journal Molecular Cell.

Research team investigates abnormal neuron activity in Rett syndrome
Research by Billy Lau, a postdoctoral researcher working with Assistant Professor Keerthi Krishnan at the University of Tennessee, Knoxville, examines the time during which an adult female mouse first learns to recognize and respond to the distress cries of young mouse pups as an opportunity for the brain to rewire and learn again.

A dietary supplement improves skills of an atypical Rett syndrome patient
Administration of the amino acid L-serine, a dietary supplement, contributes to the improvement of the communicative and motor skills of a patient with a mutation that alters glutamate receptors.

A new drug shows preclinical efficacy in Rett syndrome
A new article published in the Cell Reports describes how a new drug is able to reduce the symptoms and activate the dormant neurons characteristic of Rett Syndrome in preclinical models.

X chromosome reactivation could treat Rett syndrome, other X-linked disorders
A study from a team of Massachusetts General Hospital investigators points toward a potential strategy for treating X-linked disorders -- those caused by mutations in the X chromosome -- in females.

Discovery fuels hope for Rett syndrome treatment
Vanderbilt University researchers have relieved symptoms of Rett syndrome in a mouse model with a small molecule that works like the dimmer switch in an electrical circuit.

Drug improves brain performance in Rett syndrome mice
A brain penetrant drug -- a small-molecule mimetic of BDNF, or brain derived neurotrophic factor -- is able to improve brain performance in Rett syndrome mice -- specifically synaptic plasticity in the hippocampus and object location memory.

Small-molecule therapeutic boosts spatial memory and motor function in Rett syndrome mice
Rett syndrome is a neurological disorder affecting learning and development, caused by a mutation in the MECP2 gene triggering decreased levels of brain-derived neurotrophic factor (BDNF).

Read More: Rett Syndrome News and Rett Syndrome Current Events is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to