Breaking News
November 20, 2018 - Towards finding a druggable cancer target
November 20, 2018 - Ultragenyx Announces Intent to Submit New Drug Application to U.S. FDA for UX007 for the Treatment of Long-chain Fatty Acid Oxidation Disorders in Mid-2019
November 20, 2018 - Cooling ‘brains on fire’ to treat Parkinson’s
November 20, 2018 - Less pollution could increase the average lifespan of Copenhageners by an entire year in 2040
November 20, 2018 - Abramson Cancer Center becomes the 28th member institution of National Comprehensive Cancer Network
November 20, 2018 - The plug and play time-resolved spectrometer from PicoQuant
November 20, 2018 - Breakthrough technology offers new hope to people with glaucoma, retinitis and macular degeneration
November 20, 2018 - New report highlights key focus areas to help cancer screening realize its full potential
November 20, 2018 - International experts to discuss strategies to maintain spatial orientation in old age
November 20, 2018 - Scientists discover new inhibitor that decreases lung inflammation
November 20, 2018 - Participation project calls for relaxing research ban on germline interventions
November 20, 2018 - Karyopharm’s Selinexor Receives Fast Track Designation from FDA for the Treatment of Patients with Relapsed or Refractory Diffuse Large B-cell Lymphoma
November 20, 2018 - Arthritis by the Numbers: Book of Trusted Facts & Figures
November 20, 2018 - Drug homing method helps rethink Parkinson’s
November 20, 2018 - AHF commends the passage of global AIDS funding in the House, calls for swift approval
November 20, 2018 - The search for new psychiatric disorder treatments
November 20, 2018 - New research offers hope for simpler way to diagnose and treat cancer
November 20, 2018 - Study sheds light on the infection mechanism of influenza virus
November 20, 2018 - Storage failures of eggs and embryos gain a new perspective
November 20, 2018 - Buyers of short-term health plans: Wise or shortsighted?
November 20, 2018 - Study indicates that frogs in virus-exposed groups breed at young age
November 20, 2018 - FDA Alerts Health Care Professionals and Patients Not To Use Sterile Drug Products from Pharm D Solutions
November 20, 2018 - Asthma may contribute to childhood obesity epidemic
November 20, 2018 - Researchers to explore the enigmatic role of unstructured protein in regulating circadian function
November 20, 2018 - Many patients with adenomas do not receive colonoscopy within recommended time frame
November 20, 2018 - Drug used to treat PTSD does not reduce suicidal thinking, may worsen nightmares and insomnia
November 20, 2018 - In-person social contact may offer protection against depression and PTSD symptoms
November 20, 2018 - Routine HCV testing in correctional facilities can best identify and treat disease, say researchers
November 20, 2018 - Molecular DNA analysis could facilitate more accurate prognosis, treatment of aggressive brain tumors
November 20, 2018 - Breast Cancer Recurrence Rate Not Up With Autologous Fat Transfer
November 20, 2018 - Beta 2 Microglobulin (B2M) Tumor Marker Test: MedlinePlus Lab Test Information
November 20, 2018 - Could bariatric surgery make men more virile?
November 20, 2018 - Urine test to check if patients take their medications will save the NHS money, say researchers
November 20, 2018 - Study reveals impact of residual inflammatory risk on clinical outcomes after PCI
November 20, 2018 - RNAi therapy shown to alleviate preeclampsia
November 20, 2018 - Replacement of dysfunctional microglia has therapeutic potential for neurodegenerative diseases
November 20, 2018 - Forming 3D Neuronal Models of the Brain
November 20, 2018 - Shoulder ultrasounds could be used to predict diabetes
November 20, 2018 - SGLT2 Inhibitors for Diabetes Linked to Increased Risk for Amputation
November 20, 2018 - Stem cell transplant cements Arizona men’s father-son bond
November 20, 2018 - Scientists try to develop portable systems that can quickly produce biologics on demand
November 20, 2018 - Automating Data Capture and Image Analysis in Continuous Experiments
November 20, 2018 - New drug shows promise for treating people with peanut allergy
November 20, 2018 - Researchers develop novel mouse model to study immunomodulatory therapies
November 20, 2018 - “Britain must not go backward on antibiotic controls to appease US trade deals” – Jim Moseley, CEO of Red Tractor
November 20, 2018 - Widespread errors in ‘proofreading’ cause inherited blindness
November 20, 2018 - Reaping the benefits of living longer
November 20, 2018 - New Program Hopes to Make Early Detection and Treatment of ALS a Reality
November 19, 2018 - Artificial bone-like substance mimics the way real bone grows at atomic level
November 19, 2018 - FDA Grants Orphan Drug Designation To RGX-181 Gene Therapy For The Treatment Of CLN2 Form Of Batten Disease
November 19, 2018 - Systemic mastocytosis – Genetics Home Reference
November 19, 2018 - Eye trauma secondary to falls in older adults increasing
November 19, 2018 - Empowering women in India to improve their health: A Q&A
November 19, 2018 - Researchers have trained a computer to analyze breast cancer images and classify tumors
November 19, 2018 - New glucose binding molecule could be key to better metabolic control for diabetics
November 19, 2018 - Biologists uncover novel genetic control of lipid maintenance and its potential connection to lifespan
November 19, 2018 - Warmer winters may set scene for higher rates of violent crimes
November 19, 2018 - Personalized program of physical exercise effective in reversing functional decline in the elderly
November 19, 2018 - Acacia Pharma Resubmits Barhemsys New Drug Application
November 19, 2018 - PDL1 (Immunotherapy) Tests: MedlinePlus Lab Test Information
November 19, 2018 - Transforming pregnancy research with a smartphone app
November 19, 2018 - Stanford Medicine magazine explores how digital technology is changing health care
November 19, 2018 - Vision impairments may increase risk of falls in older adults
November 19, 2018 - Concomitant use of sleeping pills and opioids found to prevalent among people with Alzheimer’s disease
November 19, 2018 - Marijuana prevention programs should focus on promoting mental wellbeing of youth
November 19, 2018 - New report calls for greater awareness and emphasis on scale and impact of atrial fibrillation
November 19, 2018 - In throes of turkey salmonella outbreak, don’t invite illness to your table
November 19, 2018 - UK health policies should be redesigned to become more accessible for men
November 19, 2018 - Short Interpregnancy Intervals Tied to Adverse Outcome Risk
November 19, 2018 - New mothers’ breastfeeding pain can affect infant health
November 19, 2018 - Stanford Medicine magazine reports on ways digital technology is transforming health care | News Center
November 19, 2018 - Human drugs alter cricket personality
November 19, 2018 - Insilico Medicine to introduce ‘Cure a disease in a year’ program at Biodata World Congress 2018
November 19, 2018 - Experts debate over whether gut or brain is more important in regulating appetite
November 19, 2018 - Playing on fear and fun, hospitals follow pharma in direct-to-consumer advertising
November 19, 2018 - 2PG Company receives grant to develop sensitive, low-cost molecular diagnostic tests for tuberculosis
November 19, 2018 - Low-Carb Diets May Work By Boosting Calorie Burn
November 19, 2018 - Key molecule responsible for learning and memory discovered
November 19, 2018 - New blood test developed for early diagnosis of ovarian cancer
November 19, 2018 - Researchers identify molecule to fight myotubular myopathy
Study finds more information about how gene linked to ASD affects the brain

Study finds more information about how gene linked to ASD affects the brain

image_pdfDownload PDFimage_print

New preclinical research shows a gene already linked to a subset of people with autism spectrum disorder is critical to healthy neuronal connections in the developing brain, and its loss can harm those connections to help fuel the complex developmental condition.

Scientists at Cincinnati Children’s Hospital Medical Center report in Developmental Cell their data clarify the biological role of the gene CHD8 and its protein CHD8 in developing oligodendrocytes, cells that form a protective insulation around nerves. The sheath supports neuronal connections in the brain and manifest themselves in white matter.

Although previous studies show disruptive mutations in CHD8 cause autism spectrum disorders (ASDs) and abnormalities in the brain’s white matter, the underlying biology has been a mystery.

The current study, published online June 18, shows that disruption of CHD8 hinders the production and maintenance of nerve insulation-;harming the brain’s neuronal connections and contributing to white matter damage. In laboratory mouse models genetically engineered to not express the CHD8 protein in the oligodendrocytes, the animals exhibited behavioral anomalies and seizures, according to lead study investigator Q. Richard Lu, PhD, Division of Experimental Hematology and Cancer Biology.

“So far no treatment is available for autism patients with mutations in CHD8, one of the highest risk-susceptibility genes for autism,” Lu said. “Current studies are still at a very early stage in terms of therapeutic agents, but our findings present a potential strategy to restore the function of faulty CHD8-dependent processes.”

Reversing Damage

Scientists found the strategy by using a number of experimental procedures with mice, including ChIP-Seq analysis of specific DNA-binding sites in developing oligodendrocytes, which helped them unravel biological processes. Their data showed that CHD8 loss or mutation reduces the function of what is known as a histone methyltransferase, which helps activate target genes needed for oligodendrocyte development.

They then figured out that using an experimental compound (CPI-455), which inhibits a different molecule linked to CHD8 called histone demethylase, rescued the development of oligodendrocytes. This reversed white matter defects in CHD8-mutant mice and reduced neurological problems in the animals.

Lu said the findings suggest that modulating the activity of CHD8 and the molecules that control it has the potential to enhance the generation of neuronal insulation in people with ASDs. He also stressed it will be years before knowing if the research will translate to clinical care in patients.

Additional studies are needed to verify the current study’s findings, identify a suitable drug, and test its safety and effectiveness in laboratory models.

Unlocking the Code

CHD8 functions in the cell nucleus. It essentially unlocks the double-helix structure in the nucleus that contains DNA and RNA coding molecules. This allows changes to the helix’s genetic and molecular composition that support the development of oligodendrocytes and nerve insulation by regulating levels of encoded gene products.

When mutations or loss of CHD8 occur, it results in harmful remodeling of molecular components in the helix (referred to as chromatin).

Source:

https://www.cincinnatichildrens.org/news/release/2018/chd8-gene

Tagged with:

About author

Related Articles