Breaking News
October 23, 2018 - FDA targets 465 websites that sell potentially dangerous, unapproved drugs
October 23, 2018 - New approach may lead to better diagnostic techniques for autoimmune disorders
October 23, 2018 - Innovative computer software sheds new light on genetic processes underlying deadly diseases
October 23, 2018 - Juul Drawing Lots of Teen Followers on Twitter
October 23, 2018 - WHO says Zika risk low in Pacific ahead of Meghan visit
October 23, 2018 - A deeper look at ‘Reflecting Frankenstein’
October 23, 2018 - Breastfeeding can have protective affect against high blood pressure in women, confirms study
October 23, 2018 - Epigenetic modifications may contribute to Alzheimer’s Disease
October 23, 2018 - Volunteering for peer counseling programs benefits people with lupus
October 23, 2018 - Cancer treatment may undergo a paradigm shift to immunotherapy soon
October 23, 2018 - Study uncovers new mechanism of action in a first-line drug for diabetes
October 23, 2018 - New type of molecule shows early promise against treatment-resistant prostate cancer
October 23, 2018 - Lancet publishes pioneering study of Aimovig’s efficacy in episodic migraine patients
October 23, 2018 - Scientists grow functioning human neural networks in 3D from stem cells
October 23, 2018 - Using mushrooms as a prebiotic may help improve glucose regulation
October 23, 2018 - New ENT clinic treats children in Zimbabwe
October 23, 2018 - CUIMC Celebrates 2018-2019, Issue 2
October 23, 2018 - Immunotherapy is better than chemotherapy as first-line treatment for advanced head and neck cancer
October 23, 2018 - Polyganics begins first-in-human clinical trial of LIQOSEAL for reducing CSF leakage
October 23, 2018 - Gut bacterial community of healthy adults recovers after short-term exposure to broad-spectrum antibiotics
October 23, 2018 - Lowering systolic blood pressure does not damage the kidneys, shows study
October 23, 2018 - Incyte Announces Positive Data from Phase 2b Trial of Ruxolitinib Cream in Patients with Atopic Dermatitis
October 23, 2018 - Cardiovascular admissions more common among most deprived
October 23, 2018 - Targeted drug and hormone therapy combination extends breast cancer survival
October 23, 2018 - Map of human liver cells reveals molecular make-up of individual cells
October 23, 2018 - Drugs approved for breast cancer treatment are effective and well tolerated in men
October 23, 2018 - EKF introduces new hand-held lactate analyzer for rapid sports performance monitoring
October 23, 2018 - Researchers identify common genetic connection in lung conditions
October 23, 2018 - Forbius initiates Phase 2a trial evaluating efficacy, safety of AVID100 in patients with squamous NSCLC
October 23, 2018 - Immunotherapy achieves major pathological response in early-stage mismatch repair deficient colon cancer
October 23, 2018 - New discovery may lead to better treatment options for pancreatic cancer patients
October 23, 2018 - FDA Approves Dupixent (dupilumab) for Moderate-to-Severe Asthma
October 23, 2018 - Researchers identify immune culprits linked to inflammation and bone loss in gum disease
October 23, 2018 - Despite lower risk factors, black men have higher rates of recidivism
October 23, 2018 - Study finds why pregnant women in mainland China, Hong Kong and Taiwan prefer cesarean delivery
October 23, 2018 - AbbVie’s U-ACHIEVE Phase 2b/3 dose-ranging study improves outcomes in patients with ulcerative colitis
October 23, 2018 - NCI grant awarded to Abramson Cancer Center to study CAR T cells In solid tumors
October 23, 2018 - Scientists use electron microscope to study chemical transformation in catalytic cross-coupling reaction
October 23, 2018 - Research offers new hope to men who received childhood cancer treatment
October 23, 2018 - New medical navigation system receives international innovation award
October 23, 2018 - Adverse Childhood Experiences Tied to Burnout in BSN Students
October 23, 2018 - High levels of oral disease among elite athletes affecting performance
October 23, 2018 - Study examines effect of immediate vs delayed pushing during labor on delivery outcomes
October 23, 2018 - LU-RRTC to spearhead capacity-building efforts for racial and ethnic populations
October 23, 2018 - Maintenance therapy with olaparib improves progression-free survival in advanced ovarian cancer patients
October 23, 2018 - Organic food may protect against cancers finds study
October 23, 2018 - Interweaving anxiety disorder associated with stuttering remains unrecognized
October 23, 2018 - Cannabis oil shown to significantly improve Crohn’s disease symptoms
October 23, 2018 - Knowledge of sex differences in lower urinary tract may help stimulate breakthroughs in diagnosis, management
October 23, 2018 - Common antibodies associated with myocardial infarction
October 23, 2018 - Study reveals new treatment option for women with advanced breast cancer resistant to hormone therapy
October 23, 2018 - Brain’s ‘Self-Control’ Center May Be Key to Weight-Loss Success
October 23, 2018 - Prosthetic valve mismatches common in transcatheter valve replacement, ups risk of death
October 23, 2018 - Can virtual reality help people become more compassionate?
October 23, 2018 - Screen time eclipsed outdoor time for most students, shows study
October 23, 2018 - SLU researcher seeks to find solutions for ‘chemo brain’ symptoms and side effects of opioids
October 23, 2018 - Plastics now commonly found in human stools
October 23, 2018 - Zoledronic acid increases disease-free survival in premenopausal women with HR+ early breast cancer
October 23, 2018 - Cancer survivors at risk for heart failure during, after pregnancy
October 23, 2018 - Stanford project brings health education videos to mothers in South Africa
October 23, 2018 - HIV-infected Hispanics at higher risk of developing HPV-related cancers, finds study
October 23, 2018 - Politicians hop aboard ‘Medicare-for-all’ train, destination unknown
October 23, 2018 - Study suggests rising childhood obesity rates as cause for serious hip disease in adolescents
October 23, 2018 - Study highlights existence of barriers to early clinical trial access for adolescents and young adults
October 23, 2018 - Protein sequencing technique could revolutionize biomedical research
October 23, 2018 - Canon Medical to showcase world’s first Ultra-High Resolution CT system at ASTRO 2018
October 23, 2018 - Spectrum Pharmaceuticals Announces Release of Updated Poziotinib Data From MD Anderson Phase 2 Study in Non-Small Cell Lung Cancer Patients
October 23, 2018 - Cancer stem cells use ‘normal’ genes in abnormal ways
October 23, 2018 - Bad Blood: A conversation with investigative reporter John Carreyrou | News Center
October 23, 2018 - As U.S. fertility rates collapse, finger-pointing and blame follow
October 23, 2018 - Researchers develop promising targeted strategy to treat chemo-resistant blood cancer
October 23, 2018 - Pilot clinical trial shows effectiveness of bioelectronic medicine device for lupus
October 23, 2018 - Genentech’s combination therapy improves outcome in patients with non-squamous non-small cell lung cancer
October 23, 2018 - 11th World Stroke Congress examines high stroke impact in low- and middle-income countries
October 22, 2018 - Breast cancer survival could be extended with two new drug combinations
October 22, 2018 - Researchers discover how acne-causing bacteria resist treatment
October 22, 2018 - Cancer trial shows treating the prostate with radiotherapy improves survival
October 22, 2018 - New hope for a drug to treat lymphedema symptoms
October 22, 2018 - Immune-Based Treatment Helps Fight Aggressive Breast Cancer, Study Finds
October 22, 2018 - Takeda announces positive Phase 3 ALTA-1L data in first-line therapy for advanced ALK+ NSCLC
Rare variants in non-coding DNA inherited from parents heighten autism risk

Rare variants in non-coding DNA inherited from parents heighten autism risk

image_pdfDownload PDFimage_print

In recent years, researchers have firmly established that gene mutations appearing for the first time, called de novo mutations, contribute to approximately one-third of cases of autism spectrum disorder (ASD). In a new study, an international team led by scientists at University of California San Diego School of Medicine have identified a culprit that may explain some of the remaining risk: rare inherited variants in regions of non-coding DNA.

The findings are published online in the April 20, 2018 issue of Science.

The newly discovered risk factors differ from known genetic causes of autism in two important ways. First, these variants do not alter the genes directly but instead disrupt the neighboring DNA control elements that turn genes on and off, called cis-regulatory elements or CREs. Second, these variants do not occur as new mutations in children with autism, but instead are inherited from their parents.

“For ten years we’ve known that the genetic causes of autism consist partly of de novo mutations in the protein sequences of genes” said Jonathan Sebat, a professor of psychiatry, cellular and molecular medicine and pediatrics at UC San Diego School of Medicine and chief of the Beyster Center for Genomics of Psychiatric Genomics. “However, gene sequences represent only 2 percent of the genome.”

To investigate the other 98 percent of the genome in ASD, Sebat and his colleagues analyzed the complete genomes of 9,274 subjects from 2,600 families. One thousand were sequenced in San Diego at Human Longevity Inc. (HLI) and at Illumina Inc., and DNA sequences were analyzed at the San Diego Supercomputer Center at UC San Diego. These data were then combined with other large studies from the Simons Simplex Collection and the Autism Speaks MSSNG Whole Genome Sequencing Project.

The researchers then analyzed structural variants, deleted or duplicated segments of DNA that disrupt regulatory elements of genes, dubbed CRE-SVs. From the complete genomes of families, the researchers found that CRE-SVs that are inherited from parents also contributed to ASD.

“We also found that CRE-SVs were inherited predominantly from fathers, which was a surprise,” said co-first author William M. Brandler, PhD, a postdoctoral scholar in Sebat’s lab at UC San Diego and bioinformatics scientist at HLI.

“Previous studies have found evidence that some protein-coding variants are inherited predominantly from mothers, a phenomenon known as a maternal origin effect. The paternal origin effect we see for non-coding variants suggests that the inherited genetic contribution from mothers and fathers may be qualitatively different.”

Sebat said current research does not explain with certainty what mechanism determines these parent-of-origin effects, but he has proposed a plausible model.

“There is a wide spectrum of genetic variation in the human population, with coding variants having strong effects and noncoding variants having weaker effects”, he said. “If men and women differ in their capacity to tolerate such variants, this could give rise to the parent-of-origin effects that we see.”

Source:

https://health.ucsd.edu/news/releases/Pages/2018-04-19-Variants-in-Non-Coding-DNA-Contribute-to-Inherited-Autism-Risk.aspx

Tagged with:

About author

Related Articles