FSHD News

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👉DUX4 at 25: how it emerged from "junk DNA" to become the cause of #FSHD

💡The history of DUX4, fromgenetic linkage studies in the early 1990s, through to identificationof the DUX4 gene in 1999

📰https://pubmed.ncbi.nlm.nih.gov/40855454/

Alexandra Belayew , Alberto L Rosa & Peter S Zammit

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👉Iron supplementation alleviates pathologies in a mouse model of #FSHD

💡DUX4-provoked toxicity is involved in the activation of the ferroptosis-related pathway

📰https://jci.org/articles/view/181881
(pdf) jci.org/articles/vie...

Vita Therapeutics and I Peace announced a development program to generate iPS-derived differentiated cells for transplant therapy with an initial focus on FSHD (Facioscapulohumeral Muscular Dystrophy)... /PRNewswire/ -- Leading GMP cell CDMO I Peace, Inc. (https://ipeace.com/en/), specializing in induced pluripotent stem cells (iPSCs) and iPSC-derived cell...

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@Vita Therapeutics and I Peace announced a development program to generate iPS-derived differentiated cells for transplant therapy with an initial focus on #FSHD using universal #iPS cells

www.prnewswire.com/news-release...

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👉Machine learning-driven Heckmatt grading in #FSHD: A novel pathway for musculoskeletal ultrasound analysis

💡Automatic pipeline for muscle ultrasound analysis, leveraging machine for segmentation, classification, and quantitative Heckmatt grading

📰https://pubmed.ncbi.nlm.nih.gov/40020544/

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👉Strength and functional correlates of reachable workspace in #FSHD

Correlations between total relative surface area and upper extremity strength measured by quantitative muscle testing

pubmed.ncbi.nlm.nih.gov/39978161/

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👉Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature

💡#FSHD:
#Incidence rate 0.3
#Prevalence rate-Mean /100,000: 5
Prevalence rate-Range/100,000: 0.79–12

📰https://journals.sagepub.com/doi/abs/10.1177/22143602241313118

👉 Proteomic profiling uncovers sexual dimorphism in the muscle response to wheel running exercise in the FLExDUX4 murine model of #FSHD

💡mice recapitulates characteristics of FSHD, ; alterations to mitochondria, RNA metabolism, oxidative stress, and apoptosis.

📰 www.biorxiv.org/content/10.1...

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👉Sarcolemmal dysfunction in #FSHD: An assessment using muscle velocity recovery cycles

💡The study suggests that functional changes in muscle membrane properties occur early in FSHD

📑https://pubmed.ncbi.nlm.nih.gov/40085998/

Muscle imaging in facioscapulohumeral muscular dystrophy research: A scoping review and expert recommendations Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary muscle disorder and the second most common muscular dystrophy in adulthood, with an estimated prevalence of approximately 12 per 100,000 i...

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👉Muscle imaging in #FSHD research: A scoping review and expert recommendations

💡A specific muscle ultrasound protocol is suitable for diagnosis and has potential as both a prognostic and monitoring biomarker in FSHD research.

📑 www.nmd-journal.com/article/S096...

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👉High prevalence of #FSHD and inflammatory myopathies association: Is there an interplay ?

💡Prevalence of FSHD in the IIM cohort was 1/350, and the prevalence of IIM in the FSHD cohort was 1/40

📰https://pubmed.ncbi.nlm.nih.gov/39855012/

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👉Increased muscle satellite cell content and preserved telomere length in response to combined exercise training in patients with #FSHD

💡These findings suggest that such training supports muscle regeneration without accelerating cellular aging.

t.co/yLMeTn0rsy

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👉The Unexplored Role of Connexin Hemichannels in Promoting #FSHD Progression

💡FSHD progression, with a focus on hormones, inflammation, reactive oxygen species (ROS), and mitochondrial function

pmc.ncbi.nlm.nih.gov/articles/PMC...

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👉The distribution of #D4Z4 repeats in #China and direct prenatal diagnosis of #FSHD by optical genome mapping

💡Optical genome mapping is an accurate and effective method for the prenatal diagnosis

t.co/1mpXs68lxp

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👉Bilateral foot drop as presenting feature of #FSHD 1

💡The relevance of a thorough clinical examination, accompanied by conventional diagnostic applications to obtain a correct #genetic #diagnosis

📰https://pmc.ncbi.nlm.nih.gov/articles/PMC11722158/

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👉Sternal Reconstruction for Refractory Pectus Excavatum From #FSHD

💡Successful implantation of a customized sternal plate in the treatment of a patient with refractory pectus excavatum

t.co/rvqXQzECCh

👉Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with #FSHD

💡In 14/18 patients, we identified FSHD-unrelated genetic causes, most often unrelated repeat expansion disorders.

📰https://pubmed.ncbi.nlm.nih.gov/39775061/

DUX4-induced HSATII RNA accumulation drives protein aggregation impacting RNA processing pathways RNA-driven protein aggregation leads to cellular dysregulation by sequestering regulatory proteins, disrupting normal cellular processes, and contributing to the development of diseases and tumorigene...

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👉#DUX4-induced HSATII RNA accumulation drives protein aggregation impacting RNA processing pathways

💡HSATII-RNP formation on #RNA processing pathways provides valuable insight underlying #FSHD.

pmc.ncbi.nlm.nih.gov/articles/PMC...

Analysis of Body Fluid Distribution, Phase Angle and Its Association With Maximal Oxygen Consumption in Facioscapulohumeral Dystrophy: An Observational Study Background and Aims Body composition parameters associated with aerobic fitness, mirrored by maximal oxygen consumption (V̇O2max), have recently gained interest as indicators of physical efficiency ...

Analysis of Body Fluid Distribution, Phase Angle and Its Association With Maximal Oxygen Consumption in #FSHD: An Observational Study

The phase angle of FSHD patients is lower than healthy controls.

onlinelibrary.wiley.com/doi/10.1002/...

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance - European Journal of Human Genetics European Journal of Human Genetics - SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance

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👉SMCHD1 genetic variants in type 2 #FSHD & challenges in predicting pathogenicity & disease penetrance

💡The intriguing relationship between D4Z4 methylation, SMCHD1 variants with SMCHD1 protein structure-function in FSHD

www.nature.com/articles/s41...

👉Age at onset mediates genetic impact on disease severity in #FSHD

💡Independent contributions from D4Z4 repeat units, D4Z4 methylation levels, mosaic mutation and inheritance pattern on age at onset variation

📰 pubmed.ncbi.nlm.nih.gov/39711249/

👉Longitudinal Insights Into Childhood Onset #FSHD: A 5-Year Natural History Study

💡This study contributes to improved counseling for children and their parents

📰https://pmc.ncbi.nlm.nih.gov/articles/PMC11655134/

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👉Identifica0tion of disease-specific extracellular vesicle-associated plasma protein biomarkers for Duchenne MD &#FSHD

💡Circulating extracellular vesicle content disease-specific protein biomarkers for DBMD & FSHD

📰 pubmed.ncbi.nlm.nih.gov/39649602/

SOLVE FSHD Challenges Innovators with USD$10 Million Bonus Prize to Accelerate FSHD Breakthroughs in XPRIZE Healthspan Competition XPRIZE Healthspan competition announced by SOLVE FSHD invites innovators with USD$10 million bonus prize.

VANCOUVER
👉SOLVE FSHD, a venture philanthropy organization dedicated to accelerate new therapies, is calling on innovators worldwide to compete for the USD$10 million #FSHD Bonus Prize

📰 www.businesswire.com/news/home/20...

👉SIX transcription factors are necessary for the activation of DUX4 expression in #fshd

💡Involvement of SIX transcription factors in the promotion of #DUX4 expression epigenetic derepression of the #D4Z4 repeats.

📰https://skeletalmusclejournal.biomedcentral.com/articles/10.1186/s13395-024-00361-3

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👉Optical genome mapping reveals maternal mosaicism in two Sibling cases of Early-Onset #FSHD

💡Confirmation of #D4Z4 repeat reduction, particularly in cases involving parental #mosaicism

📰https://www.sciencedirect.com/science/article/abs/pii/S0009898124023155?via%3Dihub

Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function Facioscapulohumeral muscular dystrophy (FSHD) is caused by the epigenetic de-repression of the double homeobox 4 (DUX4) gene, leading to asymmetric muscle weakness and atrophy that begins in the facia...

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👉Muscle Proteome Analysis of #FSHD Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function

💡Molecules identified may represent potential diagnostic & therapeutic targets

www.mdpi.com/2076-3921/13...

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👉Respiratory function & evaluation in individuals with #FSHD in the Muscular Dystrophy Surveillance, Tracking and Research Network

💡#Respiratory evaluation at #diagnosis could identify insufficiency as a complication

📰https://pubmed.ncbi.nlm.nih.gov/39579597/

Management of FSHD symptoms: current assistive technologies and pharmacological approaches Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetically linked disorder characterized by the progressive deterioration of muscles controlling facial and scapular movement. The severity and d...

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👉Management of #FSHD symptoms: current assistive technologies and pharmacological approaches

💡Despite advances in #pharmacological #research the variability necessitates a personalized approach

📰 www.tandfonline.com/doi/full/10....

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👉Three-dimensional tissue engineered skeletal muscle modelling #FSHD

💡3D skeletal muscle model can be employed for preclinical research and In the future be used for preclinical drug screening.

📰https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awae379/60742616/awae379.pdf

🚨 Novartis has acquired Kate Therapeutics for up to $1.1 billion

👉Kate’s FSHD program is designed to deliver a microRNA against DUX4 potently and uniformly to skeletal muscles throughout the body, knocking down DUX4 in skeletal muscles.

📰 t.co/ExvJrtekAA