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At least 541 records · Page 30

The neutrino force in neutrino backgrounds: Spin dependence and parity-violating effects

The neutrino force results from the exchange of a pair of neutrinos. A neutrino background can significantly influence this force. In this work, we present a comprehensive calculation of the neutrino force in various neutrino backgrounds with spin dependence taken into account. In particular, we calculate the spin-independent and spin-dependent parity-conserving neutrino forces, in addition to the spin-dependent parity-violating neutrino forces with and without the presence of a neutrino background for both isotropic and anisotropic backgrounds. Compared with the vacuum case, the neutrino background can effectively violate Lorentz invariance and lead to additional parity-violating terms that are not suppressed by the velocity of external particles. We estimate the magnitude of the effect of atomic parity-violation experiments, and it turns out to be well below the current experimental sensitivity.

72 PHYSICS OF ELEMENTARY PARTICLES AND FIELDS↗

An evaluation of methodology to determine algal genome completeness

The advancement of sequencing technologies has resulted in a rapid expansion of genome sequencing. One challenge in processing and analyzing this abundance of genomics data is development and application of tools to accurately assess the quality of novel genomes. The quality of a given genome assembly is commonly assessed using the presence of conserved orthologs. However, the applicability and accuracy of identifying conserved orthologs applied to algal genome assemblies, which are uniquely diverse, is unclear. Here, in this study, we analyze the utility of a genome content assessment tool, Benchmarking Universal Single-Copy Orthologs (BUSCO), to evaluate algal genome assembly completeness. We find that Chlorophyta and Stramenopile BUSCO databases are effective tools to analyze genome completeness of these lineages. For other lineages, the Eukaryota database should be utilized until additional lineage-specific databases are developed. Based on these results, suggested best practices for current usage and necessary future improvements are provided.

59 BASIC BIOLOGICAL SCIENCES↗

Annular Flow Simulation Supported by Iterative In-Memory Mesh Adaptation

Various flow regimes exist in a boiling water reactor (BWR) as the steam quality increases in the uprising coolant flow, from bubbly flow, slug/churn flow, to annular flow. The annular flow is characterized by the presence of a fast-moving gas core and the surrounding liquid film flowing on the conduit wall. Additionally, entrained droplets can be observed in the gas core with ingested bubbles in the liquid film. The dynamics occurring on the wavy interface between the liquid film and gas core plays a crucial role in affecting the heat transfer rate and pressure drop within the BWR core. However, a fundamental understanding of annular flow is still lacking, partly due to the difficulty in obtaining detailed local data in annular flow experiments. In the current study, a novel simulation framework is developed for the annular flow by coupling a computational fluid dynamics flow solver with state-of-the-art meshing software. The gas-liquid interface is tracked with the level set method. Based on the computed flow solutions, the computational mesh is dynamically adapted in memory to meet the local mesh resolution requirement. This iterative simulation-adaptation framework can ensure the fine mesh resolution across the interface, which not only helps mitigate the mass conservation degradation known to level set methods but also improves the representation of dramatic interface topological changes such as wave breaking and droplet entrainment. The present investigation will shed light onto the complex interfacial processes involved in annular flow and generate much needed simulation data for annular flow modeling.

73 NUCLEAR PHYSICS AND RADIATION PHYSICS↗

Ensuring electromagnetic compatibility in grid-connected power converters: Challenges, standards, and compliance strategies

In today's rapidly advancing world, electronic devices and systems are fundamental to a wide range of industries, including renewable energy and global telecommunications infrastructure. However, as these devices become more complex and widespread, the risk of electromagnetic interference (EMI) also increases, underscoring the importance of stringent Electromagnetic Compatibility (EMC) requirements for maintaining system integrity. This paper addresses the specific challenges associated with grid-connected power converters (GCPCs), which are critical in integrating renewable energy into existing power grids. It explores the complexities of EMI in the context of GCPCs, particularly given the recent emergence of tailored EMC standards for these systems. The paper also highlights the shortcomings of applying generic or unrelated standards to GCPCs, often leading to inadequate compliance and testing protocols. Through a detailed analysis of existing standards and recent advancements in product-specific EMC requirements, this paper provides a comprehensive overview of the current landscape, offering guidance to stakeholders on navigating the intricate EMC compliance landscape, with a focus on methodologies, testing procedures, and the evolving regulatory environment for GCPCs.

24 POWER TRANSMISSION AND DISTRIBUTION↗

Current status of anaerobic digestion of food waste in the United States

Utilization of food waste (FW) and food processing waste streams in waste-to-energy technologies has increased over the years in United States (US). This review paper compiled information from published literature and open data sources to obtain a holistic view of the current state of FW availability and its management using anaerobic digestion (AD). The review examined the usage of FW as a feedstock for AD by considering the feedstock composition and availability of FW in the US as well as challenges and opportunities with implementing FW in mono- and co-digestion. Also presented are global trends in FW digestion and the current status of FW codigestion in the US. FW in the US was characterized with regard to volume and composition to show a need for waste management and an opportunity for valuable resource recovery. Challenges and opportunities of processing via AcoD were presented to review best practices for successful operations. Environmental standards, economic incentives, and governmental policies in the US and around the world regarding waste management and utilization were discussed to identify barriers and sources of opportunity for large-scale implementation of AcoD. Additionally, a range of facilities throughout the US was examined for information regarding digestion type, feedstock (s), biogas production and utilization, and energy self-sufficiency to better understand the current status of FW digestion. Several US facilities were outlined as case studies that co-digest FW and produce and utilize biogas for various applications. Future strategies, perspectives, and roadmaps were discussed to elucidate the shaping of future FW management practices.

32 ENERGY CONSERVATION, CONSUMPTION, AND UTILIZATI↗

Orange carotenoid proteins: structural understanding of evolution and function

Cyanobacteria uniquely contain a primitive water-soluble carotenoprotein, the orange carotenoid protein (OCP). Nearly all extant cyanobacterial genomes contain genes for the OCP or its homologs, implying an evolutionary constraint for cyanobacteria to conserve its function. Genes encoding the OCP and its two constituent structural domains, the N-terminal domain, helical carotenoid proteins (HCPs), and its C-terminal domain, are found in the most basal lineages of extant cyanobacteria. These three carotenoproteins exemplify the importance of the protein for carotenoid properties, including protein dynamics, in response to environmental changes in facilitating a photoresponse and energy quenching. Furthermore, we review new structural insights for these carotenoproteins and situate the role of the protein in what is currently understood about their functions.

59 BASIC BIOLOGICAL SCIENCES↗

An Evaluation of Advanced Tools for Distributed Wind Turbine Performance Estimation

We evaluate various classes of distributed wind turbine performance tools across two sites in the United States. The class of tools ranges from the simple mass conservation model to the coupled Reynolds-averaged Navier-Stokes model, all initiated by the WIND Toolkit data set. The resource estimation at the site is evaluated against measured data at the mast location. Taking a sample 100-kW wind turbine and constant losses, we evaluate Openwind, Continuum, and WindNinja tools and document annual energy production (AEP) and time-series statistics associated with the performance estimation of the wind turbine. Using a methodology that is consistent and unbiased across the three options currently available in the industry, we elaborate results at the two sample locations and discuss the probable sources of discrepancy in the AEP estimates. Two main sources of the discrepancy come from the input WIND Toolkit data and the spatial modeling techniques of the tools to capture atmospheric physics. The discussion includes additional values that these tools may bring into the energy assessment process to enhance the owners' confidence over the distributed wind power systems.

17 WIND ENERGY↗

Large-momentum effective theory’s asymptotic extrapolation vs the inverse problem

Large-momentum effective theory is a physics-guided systematic expansion to calculate light-cone parton distributions, including collinear (PDFs) and transverse-momentum-dependent ones, at any fixed momentum fraction 𝑥 within a range of [𝑥 min , 𝑥 max ]. It theoretically solves the ill-posed inverse problem that afflicts other theoretical approaches to collinear PDFs, such as short-distance factorizations. Recently, Dutrieux et al. raised practical concerns about whether current or even future lattice data will have sufficient precision in the subasymptotic correlation region to support an error-controlled extrapolation—and if not, whether it becomes an inverse problem where the relevant uncertainties cannot be properly quantified. While we agree that not all current lattice data have the desired precision to qualify for an asymptotic extrapolation, some calculations do, and more are expected in the future. We comment on the analysis and results in Dutrieux et al. and argue that a physics-based systematic extrapolation still provides the most reliable error estimates, even when the data quality is not ideal. In contrast, reframing the long-distance asymptotic extrapolation as a data-driven-only inverse problem with ad hoc mathematical conditioning could lead to unnecessarily conservative errors.

73 NUCLEAR PHYSICS AND RADIATION PHYSICS↗

Localizing Transformations of the Galaxy-Galaxy Lensing Observable

Modern cosmological analyses of galaxy-galaxy lensing face a theoretical systematic effect arising from the nonlocality of the observed galaxy-galaxy lensing signal. Because the predicted tangential shear signal at a given separation depends on the physical modeling on all scales internal to that separation, systematic uncertainties in the modeling of nonlinear small scales are propagated outward to larger scales. Even in the absence of other limiting factors, this systematic effect alone can necessitate conservative small-scale cuts, resulting in significant losses of information in the tangential shear data vector. We develop a simple linear transformation of the standard galaxy-galaxy observable that removes this nonlocality, which ensures that the cosmological signal contained within the transformed observable is exclusively drawn from well-understood physical scales. This new observable, through its robustness against nonlocality, also enables a significant extension in the range of usable scales in galaxy-galaxy lensing compared to the standard approach in current cosmological analyses.

79 ASTRONOMY AND ASTROPHYSICS↗

Tariff Setting in the District Heating Sector: Recommendations Based on International Experience

Ukraine’s district heating (DH) system is an essential resource for the country and has the potential to provide efficient, local, and renewable energy to a large share of the population. However, inefficient regulation and management have caused the sector to experience a vicious cycle of financial, operational, and technological problems. Overcoming these challenges and building a sustainable DH system requires comprehensive reforms, which could attract significant investment, improve the quality of services, and increase the efficiency of DH. One of the key elements of a comprehensive reform program should be a comprehensive reform of the tariff system. The purpose of this report is to provide analysis of European models for tariff regulation and recommendations for reforms to Ukraine’s DH tariff system. The report presents several case studies from European countries, followed by analysis of the current tariff system in Ukraine and barriers to effective regulation. Based on these findings, the report proposes actions Ukraine could take to improve the tariff regulatory system and promote a sustainable DH sector.

29 ENERGY PLANNING, POLICY, AND ECONOMY↗

Regulatory Treatment of Low Frequency External Events under a Risk-Informed Performance-Based Licensing Pathway

Significant efforts are underway to develop and implement a risk-informed performance-based licensing framework for advanced reactors built on the establishment of an affirmative safety case. Such approaches offer the benefits of increased flexibility regarding key design and licensing decisions based on a detailed assessment and understanding of plant risk. These methods include the comprehensive analysis of scenarios that have historically been addressed through conservative and deterministic licensing analysis approaches, such as the evaluation of event sequences at frequencies of occurrence beyond the design basis. While the detailed analysis of low frequency events provides insights that can help justify alternative treatments to past conservatism, the findings are dependent on the quality and confidence associated with the analyses. The assessment of external hazards presents a unique challenge, as their potential frequency of occurrence, especially of large magnitude events, is inherently uncertain given the long return periods in question. The current project seeks to further explore the regulatory treatment of low frequency external events as part of a risk-informed performance-based framework. The goals are to identify the benefits and challenges of such approaches for advanced reactor vendors and to aid in the development of consistent and appropriate methodologies. As part of this effort, the current report summarizes initial project findings, with a focus on the evaluation of the seismic hazard. This includes an exploration of the implementation of a risk-informed performance-based approach through an example analysis. Based on the identified challenges associated with the probabilistic treatment of low frequency event sequences, additional performance-based methods were explored as complementary tools for demonstrating regulatory compliance. The report highlights key challenges and opportunities associated with the methods and outlines recommendations and future activities to assist with their implementation.

21 SPECIFIC NUCLEAR REACTORS AND ASSOCIATED PLANTS↗

Analysis and Recommendation of Tritium Gas Continuous Air Monitor Alarm Setpoints for the RPL Stack Exhaust

The Radiochemical Processing Laboratory (RPL) tritium continuous air monitor (CAM) is used for near real-time detection of tritium gas (i.e., elemental tritium [HT] and tritiated water vapor [HTO]) in the stack exhaust. The CAM interfaces with software developed by the Pacific Northwest National Laboratory (PNNL)—called the “PNNL OS3700 Tritium Monitoring Software”—that provides near real-time estimates of tritium gas air concentrations and integrated daily activities that are calculated from measured CAM counts. The OS3700 software implements alarm setpoints to alert the facility of larger tritium gas releases that if allowed to persist, could begin to challenge permitted emission and established dose constraints. This report performs a detailed review of historical and current tritium alarm setpoints used at RPL, including discussion of the technical basis used in their development, analysis of alarm frequencies using measured historical data, and performs a detailed dose assessment using more realistic release scenarios and meteorology. Based on the results, the tritium air concentration and integrated daily tritium activity alarm setpoints will remain 2.0 × 10 -5 µCi/ml and 25 Ci/day, respectively. These setpoints achieve the right operational balance in identifying larger releases from planned tritium work at RPL, without being overly conservative so as to cause nuisance alarming. Furthermore, implied doses associated with these setpoints are well below defined and regulatory limits.

325RPL↗

NDE Technology Engineering Program for Hanford DST Non-Visual Volumetric Inspection Technology: Phase II RAVIS Radiation Tolerance Test Report

This test report provides the results of radiation tolerance robustness testing that was performed on samples of robotic components and an ultrasonic guided wave air-slot sensor that represent components/sub-systems of the Robotic Air-slot Volumetric Inspection System (RAVIS) that has been engineered for volumetric inspection of Hanford tank bottom plates via under-tank refractory pad air-slots. The specific components tested for 1) functionality during active irradiation and 2) tolerance to cumulative radiation dose (until failure or upon reaching a cumulative dose test limit) were: • four samples each of a printed circuit board (PCB) and direct current (DC) motor, which are robotic components, and • 26 ultrasonic piezoelectric elements (samples) inside an air-slot sensor. The robotic components are part of the RAVIS air-slot inspection crawler drive control system that is responsible for remote communication with and actuation of the air-slot inspection crawler. The failure of either of these components during under-tank deployment would require manual retrieval via the crawler’s tether, which risks damage to the robot/refractory/tank. Preemptive replacement of the components at appropriately conservative dose/time intervals informed by failure dose would reduce the likelihood of under-tank failure. The components were included in radiation tolerance testing to quantify their failure doses to inform replacement intervals. The air-slot sensor is responsible for collecting ultrasonic inspection data (scan images) for the tank bottom plates during under-tank deployment. Compromised signal quality due to elevated noise levels caused by gamma radiation would compromise inspection performance. The air-slot sensor was included in radiation tolerance testing to quantify the impact of active irradiation on sensor signal quality. The irradiation and in-situ functional tests of the PCBs, DC motors and air-slot sensor took place in June and July 2020 at the Pacific Northwest National Laboratory. Testing was performed at a gamma dose rate near 300 rad/hr., which, in the absence of under-tank dose rate data, has been conservatively estimated to be the upper-bound dose rate beneath the primary tanks at Hanford. Irradiation took place at elevated temperatures of 150-200°F to determine failure doses that reflect the compounding effects of gamma radiation and heat. The test results revealed: • The DC motors can tolerate being actively irradiated at the high dose rate at 200°F and can tolerate a cumulative dose of 300,000 rad, that which would be incurred after 5 years of service at the 300 rad/hr dose rate. The component therefore meets minimum and preferred radiation tolerance and lifecycle requirements for robotic components. • The air-slot sensor can tolerate being actively irradiated at the high dose rate at 150°F and can tolerate a cumulative dose of 60,000 rad, that which would be incurred after 1 year of service at the 300 rad/hr dose rate. The sensor therefore meets minimum radiation tolerance and lifecycle requirements. • The PCB can tolerate being actively irradiated at the high dose rate, but can only tolerate a cumulative dose of 19,000 rad at 150-200°F. The PCB does not meet minimum radiation tolerance and lifecycle requirements; however, because the component is considered replaceable, it can be replaced before a cumulative dose of 19,000 rad is reached, determined through either monitoring with a dosimeter or scheduled time intervals that are calculated based on conservative estimates of under-tank dose rates.

73 NUCLEAR PHYSICS AND RADIATION PHYSICS↗

Neutron-antineutron oscillation search with MicroBooNE and DUNE

The Deep Underground Neutrino Experiment (DUNE) is an international project aiming at neutrino physics and astrophysics and a search for phenomena predicted by theories beyond the standard model (BSM). The excellent imaging capability of Liquid Argon Time Projection Chamber (LArTPC) technology, particle tracking and identification utilized in the Far Detector, as well as the Far Detector size and underground placement, allow the experiment to achieve high sensitivity to various rare processes. BSM theories predict the existence of baryon number non-conservation effects, in particular when the baryon number changes by 2. Here we discuss the sensitivity of DUNE to neutron-antineutron oscillation. With full event simulation and reconstruction using the LArSoft package, we have investigated the background to potential signal events from atmospheric neutrino interactions and particle misidentification, and utilized machine learning techniques to enhance the discrimination between signal and background. The methodologies being developed for a high-sensitivity search for neutron-antineutron oscillation in DUNE can also be demonstrated with the currently running MicroBooNE LArTPC. We discuss progress on demonstrating the developed techniques with the first-ever search for neutron-antineutron oscillation in a LArTPC using MicroBooNE data.

46 INSTRUMENTATION RELATED TO NUCLEAR SCIENCE AND ↗

Characterization and Analysis of the Energy-Reporting Accuracy of Connected Devices

Emerging energy-efficient building systems increasingly exhibit greater functionality, often requiring multiple operating modes (e.g. white-tunability for lighting products and data traffic for devices with networked, integrated sensors). This increased functionality makes energy consumption estimates more complex. Given that these functions consume energy, the energy performance of such building systems is dependent on what operating modes they use and how much time they spend in each mode. Devices and systems that can report their own energy consumption mitigate this energy-performance uncertainty. This study explores the energy-reporting accuracy of market-available connected electrical outlets. The study considers two residential-market products (five units each, one outlet per unit) and three commercial-market products (two units each, 18 to 24 outlets per unit) with the ability to report power drawn and/or energy consumed by devices connected to their receptacles. The products were purchased through typical market channels. Pacific Northwest National Laboratory (PNNL) conducted testing in December 2018 at its Connected Lighting Test Bed (CLTB), using a custom-developed test setup and method adapted from industry standards. The setup collected energy-consumption data reported by the outlet devices under test (DUTs) at one-minute intervals and compared that data with measurements taken by a reference meter over a range of test conditions. The residential products reported power draw but not interval or cumulative energy consumption. The commercial products reported both power draw and cumulative energy consumption. Relative reporting error (RRE) was calculated for all measurements, and analysis of the results revealed variations across devices and test conditions. The total number of measurements (50 for each residential product, 60 for each commercial product) offers an appreciable comparison of performance at the make/model level. The average RRE of the residential products derived from reported power draw was -0.02% and -1.20%. The average RRE for two of the three the commercial products derived from reported power draw was worse than those of the residential products (-2.40%, -2.72%, -0.36%). The internal integration of power over time, used to calculate cumulative energy consumption, typically occurs at current and voltage sampling rates much higher than once per minute. This suggests that the average commercial-product RRE derived from reported energy consumption should be very consistent and better than performance based on reported power draw. However, the RRE derived from reported energy consumption varied significantly across the three makes of commercial-market products and was uniformly less accurate than performance based on reported power draw. Subsequent analysis identified a number of root causes for this decrease in performance, most of which were related to reporting resolution. The goals of this study are to generate awareness of building systems capable of reporting their own energy consumption, further interest in the value of energy data for a variety of uses, draw attention to how the accuracy of reported metrics can be characterized, and quantify the performance variation found in marketavailable products. The results of this study and subsequent related work may be relevant to stakeholders in industry-specification and standards-development organizations. The methods this study employs could inform test and measurement procedures and performance classifications for connected outlets, lighting products, and other building systems capable of reporting their own energy consumption. The study concludes with stakeholder recommendations, including the following: • Energy-reporting device and system manufacturers developing products that report energy consumption should characterize the accuracy of reported metrics using a reference meter calibrated by an independent laboratory that was accredited by an ILAC MRA signatory (and whose scope of accreditation explicitly covers energy measurement), and should include this information on product data sheets. • Standards and specification development organizations should develop application-specific performance classifications that end users can understand and relate to their energy-data use needs (e.g., 2% accuracy class for utility streetlight energy billing needs, or 10% accuracy class for ESCO performance verification needs). • Current or potential owners, operators, and specifiers of energy-reporting building systems should rigorously analyze the dependency of current and planned energy-data use cases on accuracy, noting in particular the dependence (or lack thereof) on relative vs. absolute accuracy, and on trueness vs. precision (i.e., repeatability), and should communicate use-case needs to industry standards and specification organizations.

32 ENERGY CONSERVATION, CONSUMPTION, AND UTILIZATI↗

Offshore Wind Market Report: 2024 Edition Executive Summary

The Offshore Wind Market Report: 2024 Edition provides detailed information on the U.S. and global offshore wind energy industries to inform policymakers, researchers, and analysts about technology, economic, and market trends. The report provides the status of more than 322 operating offshore wind energy projects in the global fleet through Dec. 31, 2023, as well as the broader global pipeline of projects in various development stages. To provide current information and discussion on the emerging offshore wind industry in the United States, this report tracks significant U.S. domestic progress and events from Jan. 1, 2023, to May 31, 2024.

17 WIND ENERGY↗

Real-time optimization of multi-cell industrial evaporative cooling towers using machine learning and particle swarm optimization

Existing electrical generating stations must operate with greater flexibility due to increasing renewable energy penetration on the electrical grid, and many coal-fired power stations have transitioned away from baseload operation to load-following operation to aid in grid stability. In cases where multiple independently controlled cooling tower cells are used in parallel for the cooling purposes of such stations, there is an opportunity to increase plant efficiency through data-driven optimization across their full load ranges. This work presents a novel application of real-time optimization using machine learning and particle swarm optimization on a multi-cell induced-draft cooling tower servicing a coal-fired power station under variable load. This is the first work to demonstrate simultaneous optimization of a multi-cell cooling tower, in addition to using machine learning for closed-loop control on a cooling tower. A novel control configuration is presented that ensures original control logic is not adversely affected and that the overall plant process is not disrupted using only existing hardware and operational data. To verify this methodology, the 12 independent cooling tower cells are simulated in parallel using historic operating data to demonstrate the effectiveness of real-time optimization compared to current practice. An artificial neural network is trained to predict overall cooling tower power consumption using only operational data and ambient conditions with an R2 value of greater than 0.96. The real-time optimization using particle swarm yields 6.7% annual energy usage savings compared to current practices, although the extent of the real-time savings varies greatly with both plant load and environmental conditions. This is particularly significant for a variable load situation because frequent ramping typically results in reduced overall efficiency. Furthermore, this proposed AI-based solution presents an opportunity to improve the overall heat rate of a load-following coal-fired power plant without the need to perform extensive first-principles modeling or add additional hardware to the cooling tower, resulting in more resources conserved and less overall emissions per unit of electricity generated.

42 ENGINEERING↗

Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features

Abstract Alterations in RNA-splicing are a molecular hallmark of several neurological diseases, including muscular dystrophies, where mutations in genes involved in RNA metabolism or characterized by alterations in RNA splicing have been described. Here, we present five patients from two unrelated families with a limb-girdle muscular dystrophy (LGMD) phenotype carrying a biallelic variant in SNUPN gene. Snurportin-1, the protein encoded by SNUPN, plays an important role in the nuclear transport of small nuclear ribonucleoproteins (snRNPs), essential components of the spliceosome. We combine deep phenotyping, including clinical features, histopathology and muscle MRI, with functional studies in patient-derived cells and muscle biopsies to demonstrate that variants in SNUPN are the cause of a new type of LGMD according to current definition. Moreover, an in vivo model in Drosophila melanogaster further supports the relevance of Snurportin-1 in muscle. SNUPN patients show a similar phenotype characterized by proximal weakness starting in childhood, restrictive respiratory dysfunction and prominent contractures, although inter-individual variability in terms of severity even in individuals from the same family was found. Muscle biopsy showed myofibrillar-like features consisting of myotilin deposits and Z-disc disorganization. MRI showed predominant impairment of paravertebral, vasti, sartorius, gracilis, peroneal and medial gastrocnemius muscles. Conservation and structural analyses of Snurportin-1 p.Ile309Ser variant suggest an effect in nuclear-cytosol snRNP trafficking. In patient-derived fibroblasts and muscle, cytoplasmic accumulation of snRNP components is observed, while total expression of Snurportin-1 and snRNPs remains unchanged, which demonstrates a functional impact of SNUPN variant in snRNP metabolism. Furthermore, RNA-splicing analysis in patients’ muscle showed widespread splicing deregulation, in particular in genes relevant for muscle development and splicing factors that participate in the early steps of spliceosome assembly. In conclusion, we report that SNUPN variants are a new cause of limb girdle muscular dystrophy with specific clinical, histopathological and imaging features, supporting SNUPN as a new gene to be included in genetic testing of myopathies. These results further support the relevance of splicing-related proteins in muscle disorders.

Iruzubieta, Pablo (ORCID:0000000303316222)↗