Skeletal muscle is a dynamic tissue with remarkable plasticity. Skeletal muscle growth and regeneration are highly organized processes thus it is not surprising that a high degree of complexity exists in the regulation of these processes. Recent discovery of non-coding microRNAs (miRNAs) has prompted extensive research in understanding the roles of these molecules in skeletal muscle. Research s...

Skeletal muscle represents one of the most plastic tissues of our body thanks to the presence of heterogeneous population of myofibers that confer to skeletal muscle the functional plasticity necessary to modulate its morpho-fuctional properties in response to a wide range of external factors. Thus, alteration in fiber type composition represents a major component in muscle wasting associated w...

The skeletal dysplasias are a large, heterogeneous group of genetic conditions characterized by abnormal development, growth and maintenance of the elements (bones) comprised in the human skeleton [1]. In the 2010 revision of nosology and classification of genetic skeletal disorders, 456 conditions were included and placed in 40 groups defined by molecular, biochemical, and/or radiographic crit...

BACKGROUND Since the discovery of cell-free foetal DNA in the plasma of pregnant women, many non-invasive prenatal testing assays have been developed. In the area of skeletal dysplasia diagnosis, some PCR-based non-invasive prenatal testing assays have been developed to facilitate the ultrasound diagnosis of skeletal dysplasias that are caused by de novo mutations. However, skeletal dysplasias ...

Osteochondrodysplasias are a heterogeneous group of genetic skeletal dysplasias. Patients with these diseases commonly develop an early degenerative arthritis or osteoarthritis. Occasional observations of inflammatory arthritis have been made in this population but such observations are based on clinical grounds alone without confirmatory imaging studies. Four patients followed up in a paediatr...

The article outlines changes of locomotor system in patients with diabetes mellitus. Classification of individual diseases is based on the requirements of clinical practice mainly. The following diseases are described here: diabetic cheiroarthropathy, shoulder impingement syndrome, Charcots joint, diffuse idiopathic skeletal hyperostosis, diabetic osteopathy and other pathologies associated wit...

Dysfunction of the ubiquitin-proteasome system has recently been implicated in the pathogenesis of some untreatable myodegenerative diseases characterized by the formation of ubiquitinated inclusions in skeletal muscles. We have developed an in vitro model of proteasomal dysfunction by applying inhibitors of the proteasome to primary adult human skeletal muscle cultures. Our data show that prot...

Desminopathies are a largely autosomal dominant group of rare diseases caused by mutations in the desmin gene. Because desmin is the main component of intermediate filaments in cardiac, skeletal, and smooth muscle and of Purkinje fibers, these conditions are characterized by skeletal myopathy and cardiomyopathy (mainly restrictive) with arrhythmias or conduction disorders. The aim of our presen...

The inactivation of vasopressin by heart as well as skeletal muscle was investigated in in vitro experiments. Heart muscle can inactivate vasopressin while skeletal muscle only binds some vasopressin. The mechanism of vasopres sin inactivation was studied by heat treatment, by determining pH optimum and by time-dependency studies. The inactivation of vasopressin by heart muscle proved to be an ...

Skeletal muscle plays important roles in whole-body energy homeostasis. Excessive skeletal muscle lipid accumulation is associated with some metabolic diseases such as obesity and Type 2 Diabetes. The energy sensor AMPK (AMP-activated protein kinase) is a key regulator of skeletal muscle lipid metabolism, but the precise regulatory mechanism remains to be elucidated. Here, we provide a novel me...