The U.S. Food and Drug Administration today announced it is taking action to approve new labeling submitted by the company that includes the addition of a Boxed Warning, the agency’s most prominent sa...

The role of peroxisomes in skeletal muscle remains largely unexplored. Here, the authors show that peroxisomal dysfunction and disrupted crosstalk with mitochondria drive age-related muscle decline, u...

How vertebrate skeletal muscle size is regulated and balanced with body size over the life-course is unclear, but is important for human health and qu…

In this manuscript, Sacco, Caputo, and colleagues demonstrate that modulation of the JAK2/STAT3 signaling pathway during in vitro myogenic differentiation promotes expansion of PAX7+ SMPCs in multiple...

Background Enzymes of the Ten-Eleven Translocation family are responsible for 5-methylcytosine (5mC) oxidation and play a key role in regulating DNA demethylation during various developmental processe...

High-dose microdystrophin gene therapy improves muscle pathology in DMDmdx rats but can induce dose-dependent cardiac toxicity, including arrhythmias and sudden death, in both DMDmdx and wild-type rat...

In this article, Yilmaz and colleagues perform a large-scale transcriptomics metaanalysis with over 400 samples comparing established in vitro skeletal muscle models to in vivo skeletal muscle samples...

Lysosomal damage contributes to DMD pathology and is a therapeutic target worth considering for current and future approaches.

Microdystrophins are miniaturized versions of dystrophin, used in AAV gene therapy of Duchenne muscular dystrophy. Danos and colleagues describe an enhanced microdystrophin with a C-terminal extension...

The mechanisms resulting in muscle satellite cell dysfunction in diabetes are not well understood. Here, the authors show that AS160 functions in the nucleus to regulate satellite cell proliferation a...

Summary: The humanized genetic model of Duchenne muscular dystrophy (DMD), the hDMDΔ52/mdx mouse, displays molecular and functional deficits of DMD, confirming its suitability for developing human gen...

Decisions about critical care are almost always made without access to genetic information. The authors report the application of a new method of DNA sequencing in infants in a neonatal intensive c...

Genetic muscle diseases are difficult to treat due to challenges in delivering gene editors to muscles throughout the body. Here, authors engineer muscle-specific virus-like particles that fuse with s...

LARGE1 glycosyltransferase synthesizes matriglycan (xylose-glucuronate)n on dystroglycan, and short matriglycan can cause neuromuscular disorders. Authors show that LARGE1 processively polymerizes matriglycan of defined length on prodystroglycan.

Background Skeletal muscle is an important organ for health and movement, largely driven by specific muscle fibres. However, the comparison of fibre-type-specific DNA methylation and protein abundance from the same sample presents challenges. By combining previous methodological approaches we were able to directly compare the methylome and proteome in Type I and Type II human skeletal muscle fibres in males and females. Methods We assessed the methylome using the EPICv2 Infinium array and the proteome using liquid chromatography tandem mass spectrometry (LC-MS/MS) from Type I and Type II fibre pools from both males ( $$n=7$$ n = 7 ) and females ( $$n=5$$ n = 5 ). Results We identified 5,689 robust differentially methylated regions (Fisher P-value $$< 0.001$$ < 0.001 ) and found strong relationships between methylation and protein abundance in key contractile and metabolic genes. Further, we generated a reference matrix of Type I and Type II fibres and leveraged deconvolution algorithms to accurately estimate fibre-type proportions using whole-muscle DNA methylation data, providing a method to correct for fibre-type in future studies. These results are presented primarily as a resource for others to utilise. Conclusion We provide integrated methylome and proteome profiles of human muscle fibre-types generalisable to both male and females as a freely accessible interactive repository, MyoMETH ( https://myometh.net ), allowing further investigation into fibre regulation. Data are available via ProteomeXchange with identifier PXD066393 and the Gene Expression Omnibus at GSE304045 .

This study develops a novel 3D human skeletal muscle organoid platform to study the immediate molecular effects of exercise-like contractions. The model uncovers rapid proteomic and transcriptomic re....

Reducing Ca2+ leak through mutant RYR1 prevents pathological heat production in skeletal muscle.

Accurate and reproducible tools to evaluate skeletal muscle contractility help to advance the field of physiology by defining skeletal muscle function in the context of skeletal muscle development, di...

Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene resulting in dystrophin deficiency in skeletal/cardiac muscle and progressive loss of function. While the genetic causes of DMD...