Breaking News
March 24, 2019 - Practices for Reducing COPD Hospital Readmissions Explored
March 24, 2019 - Could an eye doctor diagnose Alzheimer’s before you have symptoms?
March 24, 2019 - Enzyme inhibitor stops inflammation and neurodevelopmental disorders in mouse models
March 24, 2019 - Walk, Dance, Clean: Even a Little Activity Helps You Live Longer
March 24, 2019 - Americans used less eye care in 2014 versus 2008
March 24, 2019 - Study finds link between depression in 20s linked to memory loss in 50s
March 24, 2019 - New tool helps physiotherapy students to master complex fine motor skills
March 24, 2019 - The AMR Centre secures £2.3m funding boost
March 24, 2019 - Study examines effects of taking ondansetron during first trimester of pregnancy
March 24, 2019 - Researchers identify a more effective treatment for cancer
March 24, 2019 - Open-source solution for multiparametric optical mapping of the heart’s electrical activity
March 24, 2019 - New nanotechnology approach shows promise in treating triple negative breast cancer
March 24, 2019 - Trevena Announces Publication of APOLLO-1 Results in The Journal of Pain Research Highlighting Oliceridine’s Potential for Management of Moderate-to-Severe Acute Pain
March 24, 2019 - Maternal deaths following C-section 50 times higher in Africa compared to high-income countries
March 24, 2019 - Apple watch could detect irregular heart beat says study
March 24, 2019 - Queen Mary University of London’s BCI boosts radionuclide imaging capabilities with MILabs VECTor technology
March 24, 2019 - Girls should be encouraged to gain more ball skills, shows study
March 24, 2019 - Acute doses of synthetic cannabinoid can impair critical thinking and memory
March 24, 2019 - Presence of bacteria in urine does not always point to infection, shows study
March 24, 2019 - Scientists identify a new role for nerve-supporting cells
March 24, 2019 - Hidden differences between pathology of CTE and Alzheimer’s disease discovered
March 24, 2019 - Knowing causative genes of osteoporosis may open door to more effective treatments
March 24, 2019 - Toilet-seat based cardiovascular monitoring system getting ready to begin commercialization
March 24, 2019 - New model for intensive care identifies factors that send ill patients to ICU
March 24, 2019 - Recommendations Issued for HSCT in Multiple Myeloma
March 24, 2019 - Deep brain stimulation provides sustained relief for severe depression
March 24, 2019 - “Statistical significance” may soon be a thing of past?
March 24, 2019 - Researchers track effects of epigenetic marks carried by sperm chromosomes
March 24, 2019 - AHA News: Family Adopts Three Children With Three Different Heart Conditions
March 24, 2019 - Research into opioid painkillers could provide clues for safer drug development
March 23, 2019 - Lung cancer survivor recounts her lifetime struggles
March 23, 2019 - Radial and femoral approach for PCI achieve similar results in terms of survival
March 23, 2019 - Study sheds light on the optimal timing of coronary angiography in NSTEMI patients
March 23, 2019 - Excess hormones could cause a condition that can lead to blindness in women, study finds
March 23, 2019 - Dramatic shifts in first-time opioid prescriptions bring hope, concern
March 23, 2019 - Antidepressant drugs may not work when neurons are out of shape
March 23, 2019 - TTUHSC El Paso to establish endowed chair in neurology through a major grant
March 23, 2019 - New device approved by FDA for treating patients with moderate-to-severe heart failure
March 23, 2019 - People with peripheral artery disease have lower Omega-3 Index, shows research
March 23, 2019 - Trigger warnings have minimal impact on how people respond to content, shows research
March 23, 2019 - Gilead Announces Data From Two Studies Supporting Further Development of GS-6207, a Novel, Investigational HIV-1 Capsid Inhibitor as a Component of Future Long-Acting HIV Therapies
March 23, 2019 - Selfish genetic elements amplify inflammation and age-related diseases
March 23, 2019 - Study provides new understanding of how the brain recovers from damage caused by stroke
March 23, 2019 - CRISPR/Cas libraries could revolutionize drug discovery
March 23, 2019 - Allergic reaction during pregnancy may alter sexual-development in offspring’s brain
March 23, 2019 - Seeing through a robot’s eyes helps those with profound motor impairments
March 23, 2019 - Recent research shows that ease of breastfeeding after C-section differs culturally
March 23, 2019 - Newly discovered parameters offer more control over efficient release of drugs
March 23, 2019 - ‘De-tabooing’ of abortion- Women would like more support from health care community
March 23, 2019 - Anti-TB drugs can increase susceptibility to Mtb reinfection
March 23, 2019 - New survey indicates need of attention to neglected tropical diseases
March 23, 2019 - Innovative in vitro method to develop easy-to-swallow medicine for children and older people
March 23, 2019 - Sugary drinks could raise risk of early deaths finds study
March 23, 2019 - Lian wins ENGINE grant for stem-cell-based therapy to treat Type 1 diabetes
March 23, 2019 - Overall, Physicians Are Happy and Enjoy Their Lives
March 23, 2019 - Researchers discover how blood vessels protect the brain during inflammation
March 23, 2019 - CDC study shows modest improvement in optimal hospital breastfeeding policy
March 23, 2019 - Family-based prevention program to reduce alcohol use among older teens
March 23, 2019 - Remote monitoring of implanted defibrillators in heart failure patients prevents hospitalizations
March 23, 2019 - Appropriate doffing of personal protective equipment may reduce healthcare worker contamination
March 23, 2019 - Window screens can suppress mosquito populations, reduce malaria in Tanzania
March 23, 2019 - Researchers discover new biomarker for postoperative liver dysfunction
March 23, 2019 - Pregnancy history may be linked to cognitive function in older women, finds study
March 23, 2019 - Study shows ticagrelor is equally safe and effective as clopidogrel after heart attack
March 23, 2019 - FDA Approves First Drug for Postpartum Depression, Zulresso (brexanolone)
March 23, 2019 - New guidelines outline new treatment management for psoriasis
March 23, 2019 - Thermally abused cooking oil may promote progression of breast cancer
March 23, 2019 - High-fructose corn syrup fuels growth of colon tumors in mice
March 23, 2019 - Partnership aims at establishing best practices to promote diversity in clinical trials
March 23, 2019 - New study examines presence of microbes in tap water from residences, office buildings
March 23, 2019 - Early life trauma may affect brain structure, contribute to major depressive disorder
March 23, 2019 - NIH starts clinical trial of drug to treat cravings associated with opioid use disorder
March 23, 2019 - Cervix bacteria, immune factors could be a warning signal of premature birth, reports new research
March 23, 2019 - Worst-ever emergency care performance figures underscore the need to focus on staffing
March 23, 2019 - The Current issue of “The view from here” is concerned with Cancer
March 23, 2019 - Mouse model validates how ‘good’ and ‘bad’ bacteria affect acne
March 23, 2019 - Individual amygdala neurons respond to touch, imagery and sounds
March 23, 2019 - Combination of two topical creams can prevent cancer
March 23, 2019 - Study suggests depression screening when assessing African-Americans for schizophrenia
March 23, 2019 - New electronic support system for choosing drug treatment based on patient’s genotype
Scientists uncover possible new causes of Tourette syndrome

Scientists uncover possible new causes of Tourette syndrome

image_pdfDownload PDFimage_print

An international team that includes multiple Rutgers scientists has made significant progress in understanding the genetic causes of Tourette syndrome. They estimate that over 400 singular or combined mutated genes could pose a risk for Tourette syndrome, suggesting the disorder is as complex as autism, epilepsy, and intellectual disability.

The study appears in the journal Cell Reports.

Jay Tischfield, MacMillan Distinguished Professor of Genetics, and Gary Heiman, associate professor in the Department of Genetics, are part of the ongoing Tourette International Collaborative Genetics (TIC Genetics) study, which is the largest DNA sequencing study of Tourette. The new results are the second major set to come out of the 11-year-old study, following last year’s findings that four damaged, high-risk genes may disrupt the normal brain development.

In the new study, scientists and clinicians from Rutgers, University of California-San Francisco, and from around the United States, Europe and South Korea report two significant findings: Tourette syndrome is sometimes caused by new and rare damaging mutations in specific genes or through structural mutations, known as copy number variants (CNVs), spanning multiple genes. In addition to likely Tourette risk genes, they found another “high confidence” risk gene called CELSR3.

According to Tischfield, CNVs change the structure of segments of DNA, either through duplication or deletion. “We discovered that CNVs occur two to three times more often in children with Tourette syndrome compared to those without,” he said.

Additionally, the reoccurring damaging mutations in CELSR3 in different families, as well as observation of new mutations in other genes involved in cell polarity, provide additional evidence for how brain development is disrupted in Tourette syndrome. “These two significant findings provide a framework for future research into the causes and treatment of this remarkable and peculiar disorder,” said Tischfield.

Recently, the National Institute of Mental Health (NIMH) awarded the TIC Genetics study a grant of more than $10 million to continue the research for the next five years.

According to Heiman, the ongoing funding and research would not have been possible without the support of the New Jersey Center for Tourette Syndrome and Associated Disorders (NJCTS).

“NJCTS executive director Faith Rice and the more than 200 families at NJCTS were instrumental in launching the pilot study,” said Heiman. “Through the initial families who participated, we were able to collect samples and data to start the study and establish the first sharing repository for researchers from all over the world interested in studying Tourette syndrome.”

In 2011, the NJCTS sharing repository at Rutgers was incorporated as part of the study, which allows researchers around the world to work together to investigate the possible causes of Tourette and attempt to ultimately enable the development of more effective treatments.

“It has been rewarding to see researchers come together as a strong team committed not only to research but to finding answers,” Rice said.

According to NJCTS, Tourette syndrome is a neuropsychiatric disorder characterized by involuntary movements and uncontrollable vocal sounds referred to as tics. Tourette usually presents in early childhood, affects all races and ethnic groups, and is often accompanied by co-occurring conditions, such as depression, obsessive-compulsive disorder or attention deficit disorder. Currently, there is no known cause for Tourette syndrome nor is there a medication available that completely eliminates symptoms.


Explore further:
Scientists first to use genetic engineering technique to investigate Tourette’s

More information:
Sheng Wang et al. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis, Cell Reports (2018). DOI: 10.1016/j.celrep.2018.08.082

Journal reference:
Cell Reports

Provided by:
Rutgers University

Tagged with:

About author

Related Articles