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Rare loss-of-function variants in HECTD2 and AKAP11 confer a risk of bipolar disorder

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Rare loss-of-function variants in HECTD2 and AKAP11 confer a risk of bipolar disorder
Business

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Rare loss-of-function variants in HECTD2 and AKAP11 confer a risk of bipolar disorder

2025-03-25 18:00 Last Updated At:18:15

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.

** The press release content is from PR Newswire. Bastille Post is not involved in its creation. **

Rare loss-of-function variants in HECTD2 and AKAP11 confer a risk of bipolar disorder

Rare loss-of-function variants in HECTD2 and AKAP11 confer a risk of bipolar disorder

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Meizu Accelerates Globalization with Its Upcoming Global Launch Event on May 20

2025-05-14 23:14 Last Updated At:23:35

SHENZHEN, China, May 14, 2025 /PRNewswire/ -- Following its high-profile showcase at MWC 2025 and a series of international launch events with Geely, Meizu is set to unveil its next-generation products at a global online launch event on May 20. The event will highlight the brand's reinforced commitment to returning to the global market and its "All in AI" innovations—while introducing a suite of cutting-edge products designed to bring innovative technology products to global consumers and solidify its foothold in global markets.

At this event, Meizu will launch several new overseas smartphone models, including smart phones MEIZU Mblu 22, MEIZU Mblu 22 Pro, MEIZU Note 22, MEIZU Note 22 5G and MEIZU Note 22 Pro 5Gï¼›smart AR glasses StarV View and StarV Ring2. These new phones are equipped with high performance and high quality camera systems with exceptional durability for different kinds of users. The AI ecosystem also extends to wearable tech, with the StarV View  smart glasses and StarV Ring 2 offering immersive visual experience and intelligent healthy life.

Since initiating its globalization strategy in 2024, Meizu has rapidly expanded across more than 30 countries and regions, including Asia Pacific, Latin America, the Middle East, Central Asia, and Europe. The upcoming event will reaffirm Meizu's ambition to deepen its global market penetration, leveraging its "smartphones+XR+smart cars" ecosystem to deliver seamless cross-device experiences.

Across these devices, Meizu ensures seamless interoperability by embedding its notable Flyme AIOS, from syncing datas between smart phones, smart AR glasses and smart rings to controlling smart glasses via voice commands. This holistic approach has already garnered acclaim at MWC 2025 from media and users worldwide, where it impressed audiences with cross-device synergy.

The launch event not only underscores Meizu's technical prowess but also its resolve to compete on the global stage. With plans to make presence in more markets, Meizu aims to build a true global brand and strengthen consumer trust and accessibility.  With product innovation and brand influence driving its growth, Meizu continues to make strides in its globalization efforts.

Watch the online launch event at 15:00 on May 20th (Beijing Time, UTC+8) via:

Facebook: https://www.facebook.com/meizu
YouTube: https://www.youtube.com/@meizu.global
Tik Tok: https://www.tiktok.com/@meizutech

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** The press release content is from PR Newswire. Bastille Post is not involved in its creation. **

Meizu Accelerates Globalization with Its Upcoming Global Launch Event on May 20

Meizu Accelerates Globalization with Its Upcoming Global Launch Event on May 20

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