Rare loss-of-function variants in HECTD2 and AKAP11 confer a risk of bipolar disorder
Scientists at deCODE genetics, a subsidiary of Amgen, reveal today in Nature Genetics associations between rare loss-of-function variants in two genes and bipolar disorder.
REYKJAVIK, Iceland, March 25, 2025 /PRNewswire/ -- Bipolar disorder is characterized by extreme mood swings, bouts of mania or hypomania, and episodes of depression. It is a highly heritable and serious condition, that when untreated comes with a high suicide rate. While there are several mood-stabilizing drugs available to treat the disorder, pharmaceutical treatment of bipolar disorder can have difficult side-effects and better treatments are urgently needed.
Significant progress has occurred over the last 15 years through genome-wide association studies leading to the identification of hundreds of biomarkers, i.e. DNA sequence variants, associated with the risk of psychiatric disease, including bipolar disorder. These biomarkers represent common variations each carrying a small risk, but in confluence, they are beginning to account for a considerable part of the variance in psychiatric traits and disorders. Variants predicted to cause loss of function of genes tend to be rare but hold great promise for informing on the underlying biology.
To harness the information contained in rare loss-of-function (LOF) variants, the scientists performed a variant burden analysis for bipolar disorder using gene-based aggregation of LOF variants in whole genome sequencing data from Iceland and the UK Biobank and using data from the Bipolar Exomes study (BipEx, www.bipex.broadinstitute.org/results) for replication and further meta-analysis efforts. The study revealed the association of LOF variants in two genes (HECTD2 and AKAP11) with bipolar disorder. Both associations with bipolar disorder are novel, but AKAP11 has previously been associated with psychosis and schizophrenia.
AKAP11 encodes an anchoring protein, that regulatory subunits of protein kinase A (PKA) bind to, leading to confinement of PKA to specific cellular locations. HECTD2 encodes an E3 ubiquitin ligase, that adds multiple ubiquitin groups to proteins, thereby labeling them for destruction by the proteasome. The products of both AKAP11 and HECTD2 interact with GSK3β, a protein inhibited by lithium, the most effective mood stabilizer available to treat bipolar disorder. These findings point to the dysfunction of specific cellular pathways in bipolar disorder and cast the gene products of AKAP11 and HECTD2 along with GSK3β as promising targets in the search for new treatments for bipolar disorder.
Based in Reykjavik, Iceland, deCODE genetics is a global leader in analyzing and understanding the human genome. Using its unique expertise and population resources, deCODE has discovered genetic risk factors for dozens of common diseases. The purpose of understanding the genetics of disease is to use that information to create new means of diagnosing, treating and preventing disease. deCODE genetics is a wholly-owned subsidiary of Amgen.
SOURCE deCODE genetics
Try Our AI Features
Explore what Daily8 AI can do for you:
Comments
No comments yet...
Related Articles
Yahoo
17 hours ago
- Yahoo
2024 Cell and Gene Therapy Market Set for Breakthrough Growth, Says BCC Research
"Comprehensive Review Highlights Market Growth, Innovation, and Investment Trends Driving the Future of Cell and Gene Therapy Tools, Biomanufacturing, and Gene Synthesis" BOSTON, June 20, 2025 /PRNewswire/ -- BCC Research announces the release of its "2024 Cell and Gene: Research Review," which forecasts strong and steady growth across several key areas of the cell and gene therapy (CGT) industry. This momentum is fueled by ongoing innovation, growing investments, and rising global demand for cutting-edge therapeutic solutions. Key Highlights: • Cell and Gene Therapy Tools, and Reagents: Global Markets: The market is projected to grow from $10.0 billion in 2024 to $16.7 billion by the end of 2029. Compound Annual Growth Rate (CAGR): 10.8%. • Cell Therapy Biomanufacturing: Global Markets: The market is projected to grow from $9.7 billion in 2024 to $16.7 billion by the end of 2029. CAGR: 11.5%. • Gene Synthesis: Technologies and Global Markets: The market is projected to grow from $2.0 billion in 2023 to $4.1 billion by the end of 2028. CAGR: 15.8%. Research Coverage and Insights:This Research Review provides a clear snapshot of the fast-moving cell and gene therapy (CGT) industry. It looks at how these technologies are being used across the entire development pipeline from early research to clinical use and large-scale manufacturing, while also examining the key trends, opportunities, and challenges shaping the market. Key insights include:Broad Application Scope: CGT technologies are being applied in preclinical studies, clinical trials, therapeutic production, viral vector development, and personalized medicine. Investment-Driven Growth: A significant rise in funding and investment is accelerating innovation and expanding the CGT pipeline. Innovation at the Core: Breakthroughs in gene editing, cell modification, and biomanufacturing are pushing the boundaries of what is possible in modern medicine. Cost Challenges: Despite strong momentum, the high cost of therapy development continues to be a limiting factor for broader market adoption. Research Summary:The 2024 Cell and Gene: Research Review exemplifies the type of quantitative market data, analysis, and guidance that BCC Research has provided since 1971. This research review includes highlights and excerpts from the following reports published by BCC Research in 2024: • BIO208C Cell and Gene Therapy Tools, and Reagents: Global Markets. • BIO211B Cell Therapy Biomanufacturing: Global Markets. • BIO251A Gene Synthesis: Technologies and Global Markets. • BIO258A Global Automated and Closed Cell Therapy Market. • BIO225B Global Market for Cell and Gene Therapy. • BIO256A Global Live Cell Imaging Market. • BIO257A Global Single-cell Technologies Market. After accessing this Research Review and benefiting from its insight, we encourage you to explore the full portfolio of market research reports for a deeper understanding of each topic. BCC Research remains your trusted partner in market intelligence, and we are committed to supporting your future insights and decisions. Navigate Uncertainty with ConfidenceIn times of rapid change and uncertainty, having the right insights can make all the difference. At BCC Research, we are here to support innovation and help you stay ahead. Our custom research reports provide a comprehensive, 360-degree view of your market landscape, giving you the clarity you need to make informed decisions. We believe that timely, expert market intelligence should be accessible to all. That is why, for a limited time, we are offering 30% off the price of any BCC Research report to help more organizations gain access to our latest data and insights. For further information on any of the reports or to make a purchase, contact us at info@ About BCC Research BCC Research market research reports provide objective, unbiased measurement, and assessment of market opportunities. Our experienced industry analysts' goal is to help you make informed business decisions free of noise and hype. Contact Us Corporate HQ: 50 Milk St. Ste 16, Boston, MA 02109, USAEmail: info@ +1 781-489-7301For media inquiries, email press@ or visit our media page for access to our market research data and analysis extracted from this press release must be accompanied by a statement identifying BCC Research LLC as the source and publisher. Logo: View original content to download multimedia: SOURCE BCC Research LLC Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
Yahoo
2 days ago
- Yahoo
Japan's Top Eczema App, Atopiyo, Launches in the US: Pioneering Digital Eczema Care
11-time award winner, university-backed, delivers what 31M patients need most — visual tracking, peer support, AI analysis CHIBA, Japan, June 19, 2025 /PRNewswire/ -- Living with eczema isn't just a physical challenge—it affects mental health, confidence, and daily life. That's why ATOPIYO, Japan's leading eczema app, is launching in the U.S., where 31 million people are affected. With a growing community of over 29,000 users, ATOPIYO empowers individuals with eczema to track their symptoms, document treatment progress, and connect with others—all through a simple and intuitive visual platform. A New Way to Manage Eczema During the hot summer months, monitoring eczema symptoms becomes especially important. ATOPIYO makes this easier by allowing users to photograph their skin, meals, and medications—helping them visualize their treatment journey and share it with others over time. "This is the best eczema management app I've used so far. I hope you continue improving it! Being able to compare my symptoms with others who share the same condition—it's groundbreaking."— Google Play reviewer (JP) 3 Key Features: Visual Tracking – Snap photos to easily record and organize symptoms, diet, and medication. Peer Support – Share experiences and connect with others facing similar struggles. Anonymous & Free – Secure platform with no cost barriers to care. "Posting anonymously helps me find others with similar symptoms and treatments—it's incredibly helpful. Just seeing someone say 'I get it' when I'm feeling down from the itching or appearance is a relief. I feel less alone and more motivated to get better. Recording and sharing gives me a surprising sense of positivity. I also hope these posts contribute to new treatment development." — App Store reviewer (JP) Smartphone-Powered AI Analysis On May 20, 2025, research published in the prestigious medical journal Allergy highlighted AI technology co-developed by Keio University, Kyoto Prefectural University of Medicine, Teikyo University, and ATOPIYO, which evaluates eczema severity from smartphone photos. This breakthrough technology could be integrated into future app versions, enabling medical-grade assessments at home. Keio University: About ATOPIYO ATOPIYO was developed by Ryotaro Ako, who suffered from severe eczema as a child. Inspired by his experience and supported by his wife, a licensed pharmacist. Since its launch in Japan, ATOPIYO has grown to over 29,000 users and accumulated more than 66,000 user-submitted images. It has received 11 national awards, including the Minister of Health, Labour and Welfare Award, and is currently collaborating with 7 national and university hospitals to support eczema-related research and innovation. "Eczema doesn't stop—not even during sleep—and its visibility can take a serious toll on mental health. ATOPIYO was created to help people manage their symptoms, share experiences, and support each other on the path to recovery."— Ryotaro Ako, Founder of ATOPIYO App Information App Name: Visual Eczema Care App - ATOPIYOPrice: Free (Anonymous use)Category & Age Rating: Google Play – Medical / 12+, App Store – Medical / 17+AppStore: GooglePlay: Contact InformationCompany: Atopiyo LLCLocation: Chiba, JapanEmail: View original content to download multimedia: SOURCE Atopiyo LLC Sign in to access your portfolio
Yahoo
3 days ago
- Yahoo
Step One Foods Selected as a Good Housekeeping 2025 Snack Awards Winner
MINNEAPOLIS, June 18, 2025 /PRNewswire/ -- Step One Foods announced today that its Lemon Almond Bar and Dark Chocolate Walnut Bar have been named winners in Good Housekeeping's 2025 Snack Awards. The full list of winners can be found at Cardiologist formulated and backed by rigorous clinical research at Mayo Clinic, Step One Foods' snack bars are designed to deliver rapid, measurable improvements in cardiometabolic health — all while redefining what truly great-for-you food can taste like. Praised as the "Best Functional Bar," the Lemon Almond Bar stood out to both nutrition experts and testers for its clean ingredient list, craveable flavor, and clinically driven formulation. Good Housekeeping highlighted the bar's unique ability to promote heart health by actively blocking cholesterol absorption and reabsorption. Both the Lemon Almond and Dark Chocolate Walnut Bars were described by testers as having just the right amount of sweetness, with one noting that the dark chocolate "feels like a treat." To find the best snacks on the market, the Good Housekeeping Institute's registered dietitians and culinary experts rigorously analyzed the ingredient lists, nutrition facts labels, packaging claims and flavor profiles of hundreds of submissions. Next, more than 1,000 consumer testers tried the snacks to share feedback on taste and provide additional real-life analysis. Winners were selected based on innovations in the food space that taste great and meet nutritional criteria, such as caps on per-serving calories, sugar and sodium. Step One Foods Lemon Almond Bar offers a burst of citrusy brightness with the nutty richness of almonds, while delivering health benefits in every bite. Made with dates, flax seeds, oat bran, chia, walnuts, and lemon juice, this bar is a refreshing way to support daily fiber and plant sterol intake — two nutrients documented to help lower cholesterol. Step One Foods Dark Chocolate Walnut Bar delivers indulgent flavor with crave-worthy richness. It's made with 72% cacao dark chocolate, walnuts, chia, flax, and plant sterols to support cardiometabolic health while satisfying sweet cravings. Dessert never tasted so good - or was so good for you! "We're absolutely thrilled to be recognized by Good Housekeeping, a publication long admired for its commitment to consumer trust and product integrity," said Dr. Elizabeth Klodas, practicing cardiologist and founder of Step One Foods. "This award affirms what we've believed from day one: that food can be both delicious and deeply impactful for long-term health." Rooted in clinical science, Step One Foods formulates every product to deliver the four building blocks of heart health in clinically impactful amounts: Fiber, binds to cholesterol in the intestinal tract, aiding removal Plant sterols, block cholesterol absorption Antioxidants, reduce cholesterol oxidation preventing plaque buildup in arteries Omega-3s, reduce inflammation and support healthy cholesterol levels The winning bars are part of Step One Foods' full line of science-backed unapologetically delicious snacks and breakfast favorites all designed to support cardiometabolic health — including options like instant oatmeal, pancake mix, and other everyday staples. Each item delivers the precise nutrients in the right amounts needed to help lower cholesterol naturally, making it easier than ever to turn real food into powerful daily care. About Step One FoodsStep One Foods is a mission-driven, clinically backed food-as-medicine company founded by cardiologist Dr. Elizabeth Klodas. Frustrated by the limits of medication alone, Dr. Klodas developed Step One Foods to provide convenient, evidence-based nutrition to help patients manage and improve cardiovascular health. Step One's products have been tested in a double-blind, randomized controlled clinical trial conducted by Mayo Clinic and the University of Manitoba, demonstrating significant LDL cholesterol reductions in just 30 days. Media Contact: Jenny Pilewski 828-719-7083 396876@ View original content to download multimedia: SOURCE Step One Foods Error al recuperar los datos Inicia sesión para acceder a tu cartera de valores Error al recuperar los datos Error al recuperar los datos Error al recuperar los datos Error al recuperar los datos
