Abstract: The present invention is directed to methods of detecting SLC34A2 expression in muscle tissue in a sample from a subject comprising providing the sample from the subject; and conducting an assay to detect an expression level of SLC34A2 in the sample.

Abstract: Transgenic mice (Crym tg) overexpressing Crym protein in skeletal muscle were studied. Muscular functions, Ca2+ transients, contractile force, fatigue, and running on treadmills or wheels were not significantly altered and serum T3 and thyroid stimulating hormone levels were unaffected although T3 levels in tibialis anterior (TA) muscle were elevated and serum T4 was decreased. Crym tg mice had a decreased respiratory exchange ratio, corresponding to a 13.7% increase in fat utilization. Female Crym tg mice gained weight more rapidly than controls on high fat or high simple carbohydrate diets. Machine learning algorithms revealed morphological differences between Crym tg and control soleus fibers. RNA-seq and gene ontology enrichment analysis showed a shift towards genes associated with slower muscle function and ?-oxidation. Therefore, high levels of ?-crystallin are associated with greater fat metabolism.

Abstract: The invention relates to methods of treating a subject having a muscle disorder by identifying a subject having a muscle disorder in need of treatment; injecting human myogenic precursor cells in an amount capable of forming mature muscle tissue into a portion of a limb of the subject; subjecting a nerve of the limb to therapeutic stimulation configured to enhance engraftment of the human myogenic precursor cells; and creating a graft of the human myogenic precursor cells to promote generation of mature muscle tissue, wherein the generation of mature muscle tissue improves muscle function. Preferably, the subject is a mammal, such as a human or a non-human mammal. In some embodiments, the non-human mammal is immunocompromised and the limb is irradiated. The engraftment can be promoted by a means other than therapeutic electrical stimulation (preferably intermittent neuromuscular electrical stimulation), for example by exercise.

Abstract: Studies of the pathogenic mechanisms underlying human myopathies and muscular dystrophies often require animal models, but models of some human diseases are not yet available. The present invention provides methods to promote the engraftment and development of myogenic cells from individuals with such diseases into mature muscle tissue in mice to treat muscle diseases, muscle injury and reduced muscle function. Immortalized human myogenic precursor cells (hMPCs) form mature human myofibers following implantation into the hindlimbs of immunodeficient mice. The engraftment of the cells and their development into mature muscle myofibers is promoted by intermittent neuromuscular electrical stimulation (iNMES) of the peroneal nerve of the engrafted limb. The human myofibers that form are innervated, their contractile apparatus is fully differentiated, and they are comprised of human myonuclei, with minimal contamination by murine myonuclei.

Abstract: Embodiments of the disclosure concern methods and compositions related to the small Ankyrin 1 (sAnk1) protein and its role as a regulatory protein in at least muscle cells. In particular embodiments, its expression and/or activity are modulated with one or more compositions. In specific embodiments, compositions such as nucleic acids that inhibit expression of sAnk1 are utilized for a variety of methods, whereas in other embodiments compositions such as polypeptides, peptides, or sAnk1-encoding nucleic acids that enhance sAnk1 levels are utilized for certain methods.

Abstract: Studies of the pathogenic mechanisms underlying human myopathies and muscular dystrophies often require animal models, but models of some human diseases are not yet available. The present invention provides methods to promote the engraftment and development of myogenic cells from individuals with such diseases into mature muscle tissue in mice to treat muscle diseases, muscle injury and reduced muscle function. Immortalized human myogenic precursor cells (hMPCs) form mature human myofibers following implantation into the hindlimbs of immunodeficient mice. The engraftment of the cells and their development into mature muscle myofibers is promoted by intermittent neuromuscular electrical stimulation (iNMES) of the peroneal nerve of the engrafted limb. The human myofibers that form are innervated, their contractile apparatus is fully differentiated, and they are comprised of human myonuclei, with minimal contamination by murine myonuclei.

Abstract: Embodiments of the disclosure concern methods and compositions related to the small Ankyrin 1 (sAnk1) protein and its role as a regulatory protein in at least muscle cells. In particular embodiments, its expression and/or activity are modulated with one or more compositions. In specific embodiments, compositions such as nucleic acids that inhibit expression of sAnk1 are utilized for a variety of methods, whereas in other embodiments compositions such as polypeptides, peptides, or sAnk1-encoding nucleic acids that enhance sAnk1 levels are utilized for certain methods.

Abstract: The invention provides a system for measuring contractile torque of skeletal muscles, performing muscle training programs, and inducing contraction-induced injury. The system is versatile and precise to measure contractile torque, train muscles, and perform contraction-induced injury protocols on living rodents. The system also allows for repeated studies of the same animal over time, thus resembling longitudinal human studies, minimizing the effect of animal-to-animal variability, and reducing the total number of animals that need to be studied.

Abstract: The invention relates to the treatment, diagnosis, and prognosis of a muscular dystrophy or myopathy. The present inventors have found that the quantity of mu-crystallin is increased in a muscular dystrophy. In particular, the inventors have found that mu-crystallin is increased in facioscapulohumeral muscular dystrophy (FSHD). Based on the inventors' findings, the invention provides a novel means for the treatment, diagnosis, and prognosis of a muscular dystrophy or myopathy.