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"We're the first to see that these changes happen very early in brain development," said TSRI Professor Jeanne Loring, who led the study, published this week in the journal  Brain . "This may be the only way we'll be able to identify possible drug treatments to minimize the effects of the disorder." Fragile X syndrome typically occurs when the Fragile X Mental Retardation (FMR1) gene on the X chromosome is epigenetically silenced. People born with the syndrome can show symptoms of hyperactivity, seizures and intellectual disability. Other Fragile X symptoms, such as delayed speech and problems with social interactions, resemble symptoms of autism spectrum disorder. To better understand the biology of this syndrome and the possibility for early treatment, scientists need to know how the brain of a person with Fragile X syndrome develops -- starting with the first weeks in the womb. The problem is that it has been impossible to study the brain so early i...

An important new Tel Aviv University study published in  Molecular Psychiatry  pinpoints the mechanism harnessed by the drug candidate NAP to block the formation of these harmful neurofibrillary tangles. It facilitates the interaction of Tau with microtubules, the minitubes that serve as "train tracks" for essential movement of biological material in nerve cells. "Abnormal Tau proteins form tangles that contribute to the progression of Alzheimer's disease," said Prof. Illana Gozes, who led the research for the study. "We showed here, for the first time, that the drug candidate NAP augmented microtubule movement in nerve cells. At the molecular level, NAP, a fragment of activity-dependent neuroprotective protein (ADNP), enhanced Tau-microtubule interactions that block the recruitment of Tau to the tangles observed in Alzheimer's disease and related disorders." Prof. Gozes is the incumbent of the Lily and Avraham Gildor Chair for the Investigat...

These pictures of mouse brains examine laser scanning photostimulation maps of all of the neurons related to at least one central neuron in management mice (left) vs. mice dosed with valproic acid (VPA) to induce autism-like signs (proper). The researchers targeted on neurons within the subplate (SP) area, straight under the growing cortex (CP, or cortical plate), which controls notion and habits. The central neuron is marked in white, and every coloured sq. represents a neuron that has a direct synaptic connection to the central neuron. Reds and oranges signify stronger connections in contrast with greens and blues, indicating that subplate neurons in VPA-treated mice type quite a few robust connections early in improvement. Credit score: Daniel Nagode/Patrick Kanold Autism shouldn't be a single situation, however a spectrum of issues that have an effect on the mind's means to understand and course of data. Current analysis means that too many connections with...

The Mount Sinai study focused specifically on the production and characterization of a first genetically modified rat model for Phelan-McDermid syndrome, a developmental disorder with high rates of autism, intellectual disability, attention deficits, and severe language delay. One or more of these symptoms is found in up to 10 percent of children, with limited medicines available for treatment. Phelan-McDermid syndrome is caused by a mutation in a gene called Shank3, leading to a malfunction of nerve cells, especially at the region known as the synapse, where nerve cells communicate with each other. "Our rat model provides the research community with a valuable tool to study how altered function of synapses and nerve cells leads to subsequent deficits in behavior and cognition that are associated with multiple developmental disorders, including Phelan-McDermid syndrome." says Hala Harony-Nicolas , PhD, an instructor at The Seaver Autism Center, and the lead scientist on t...