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Category: neuroscience

Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders

Neurodevelopmental disorders from Polycomb complex missense mutations.

The causes of many neurodevelopmental disorders (NDDs) is yet to be determined.

The researchers report new missense mutations in the Polycomb repressive complex 1 (PRC1) E3 ligases RNF2 and RING1 in individuals with neurodevelopmental disorders.

Functional dissection of a deleterious variant reveals that balanced co-recruitment of Polycomb complexes to chromatin is essential for proper neurogenesis and for normal brain function and behavior. sciencenewshighlights ScienceMission https://sciencemission.com/Polycomb-complexes-drives-NDDs

Borges, González-Blanco, Arigela, et al. report new missense mutations in the PRC1 genes RNF2 and RING1 in individuals with neurodevelopmental disorders. Functional dissection of a deleterious variant reveals that balanced co-recruitment of Polycomb complexes to chromatin is essential for proper neurogenesis and for normal brain function and behavior.

Life-changing drug identified for children with rare epilepsy

A new experimental treatment for children with a hard-to-treat form of epilepsy is safe and can reduce seizures dramatically, helping them lead much healthier and happier lives, according to the findings of a UCL (University College London) and Great Ormond Street Hospital-led international clinical trial. In a paper published in The New England Journal of Medicine, researchers found that children with Dravet syndrome had up to 91% fewer seizures while being regularly administered a new medication called zorevunersen.

The results also show, for the first time, the potential to reduce the impact of the condition on a child’s mental processes and behavior. The children’s quality of life improved over a three-year period and most of the treatment’s side effects were mild.

Dravet syndrome is a devastating genetic condition that causes frequent, hard-to-control seizures and long-term neurodevelopmental impairment. The condition also causes feeding difficulties, movement problems and has a high risk of premature death. Current treatments fail to control seizures in most patients and there are no approved medicines that address the condition’s devastating cognitive and behavioral impacts.

Restoring circadian rhythms in the hypothalamic paraventricular nucleus reverses aging biomarkers and extends lifespan in male mice

Now online! Enhancing circadian amplitude in mouse hypothalamic paraventricular nucleus neurons by 3′-deoxyadenosine treatment alleviates age-related pathologies and extends lifespan.

Ctenophore research points to earlier origins of brain-like structures

New 3D reconstructions of a key sensory organ in ctenophores reveal an unexpected structural and functional complexity. The findings suggest that an elementary brain may have already appeared in our most ancient relatives, reshaping our understanding of nervous system evolution in animals. The work is published in Science Advances.

Ctenophores (comb jellies) are gelatinous animals that appeared in the ocean an estimated 550 million years ago. The delicate animals possess a specialized sensory structure called the aboral organ (AO), which allows them to sense gravity, pressure, and light. The new morphological study reveals that this organ is far more complex than previously thought.

“We show that the AO is a complex and functionally unique sensory system,” said Pawel Burkhardt, group leader at the Michael SARS Centre, University of Bergen. “Our study profoundly enhances our understanding of the evolution of behavioral coordination in animals.”

Scientists discover psychedelic drug 5-MeO-DMT induces a state of “paradoxical wake”

A new study in Communications Biology provides evidence that a psychedelic drug induces a hybrid sleep-wake state in active mice. This unusual brain activity suggests a potential mechanism for how psychedelics might help remodel neural connections.

Australian consortium to develop quantum biotechnology platform to transform Alzheimer’s treatment discovery

“Our system provides a pathway towards a fast, scalable tool for measuring real-time brain activity in synthetic tissue cultures that replicate human brain tissue,” Associate Professor Simpson said.

If successful, this brain-on-chip technology could help evaluate the effectiveness of treatments for neurological diseases, including Alzheimer’s, schizophrenia, epilepsy and anxiety, in the laboratory before moving into expensive and complex human trials.

Tiny Blood Smidges in the Brain: Amount and Location Tied to Dementia

Ploidy and neuron size impact nervous system development and function in Xenopus.

Liu et al. use triploid Xenopus as a model to characterize effects of neuron size on vertebrate nervous system development and function. They report association between neuron size, cell proliferation, brain activity, and tadpole swimming behavior.

Proton therapy for colorectal cancer

SA-CME credits are available for this article here.

Ever since the first proton beam therapy (PBT) treatment in 1954 at University of California, Berkley, the use of PBT worldwide has rapidly increased.1 Due to the depth-dose characteristics of protons that allow for steep fall-off just distal to the tumor target, PBT can reduce unnecessary radiation dose to nearby normal tissues and allow for safer dose escalation in select clinical scenarios. Superior normal tissue avoidance can lead to reductions in acute and late toxicities, safe dose escalation can lead to improved local control, and the combination of both factors has the potential to impact overall survival (OS).

Early data have suggested that PBT led to improved clinical outcomes in the treatment of various pediatric cancers, ocular melanomas, sarcomas of the paravertebral region, and brain tumors when compared with traditional photon-based radiation.2 Historically, fewer studies evaluated the utility of PBT in the treatment of gastrointestinal (GI) malignancies; however, retrospective studies in the setting of gastroesophageal cancer and pancreatic cancer show that preoperative PBT may reduce postoperative complications and definitive PBT may improve outcomes for those with unresectable disease.3–6 Even fewer studies have evaluated the role of PBT in the primary or neoadjuvant treatment of colorectal cancer (CRC), but there have been published clinical outcomes in the treatment of recurrent disease as well as liver metastases. The aim of this review is to discuss the existing dosimetric and clinical data for PBT in the treatment of patients with CRC.

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