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Depression in Myotonic Dystrophy type 1: clinical and neuronal correlates.

BACKGROUND: This study was designed to investigate the prevalence and correlates of depression in Myotonic dystrophy type 1 (DM1). METHODS: Thirty-one patients with DM1 and 47 subjects in a clinical contrast group, consisting of other neuromuscular disorders, including Spinal muscular atrophy, Limb girdle muscle atrophy and Facioscapulohumeral dystrophy, completed Beck Depression Inventory (BDI). We aimed to establish whether different factors associated with DM1 correlated with ratings in the BDI. RESULTS: Signs of a clinical depression were prevalent in 32% of the patients with DM1, which …

[Neuropathology of amyotrophic lateral sclerosis--from basic findings to topics].

Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive neurodegenerative disease that selectively affects upper and low motor neu … oneuron disease with the pyramidal tracts well stained by KB method, therefore, 'spinal progressive muscular atrophy (SPMA)', axonal staining demonstrated patent loss of large axons there. Thus, reappraisal seems to be required for previously reported SPMA cases, whose pathological diagnosis used to be made by KB staining alone.

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases.

INTRODUCTION: Dysferlinopathies are a spectrum of autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene (DYSF), leading to heterogeneous phenotypes, mainly limb-girdle muscular dystrophy type 2R (LGMDR2) and Miyoshi distal myopathy (MMD1). In Morocco, dysferlinopathies accounted for 18% of all limb-girdle muscular dystrophies, ranking second after sarcoglycanopathies. METHODS: We retrospectively analyzed 28 confirmed cases, diagnosed either by dysferlin deficiency or DYSF mutation. RESULTS: The median age at examination was 25,5 years (21-33). Twelve patients (43

CHRONIC CRITICAL ILLNESS-INDUCED MUSCLE ATROPHY: INSIGHTS FROM A TRAUMA MOUSE MODEL AND POTENTIAL MECHANISM MEDIATED VIA SERUM AMYLOID A.

Background: Chronic critical illness (CCI), which was characterized by persistent inflammation, immunosuppression, and catabolism syndrome (PICS), often leads to muscle atrophy. Serum amyloid A (SAA), a protein upregulated in critical illness myopathy, may play a crucial role in these processes. However, the effects of SAA on muscle atrophy in PICS require further investigation. This study aims to develop a mouse model of PICS combined with bone trauma to investigate the mechanisms underlying muscle weakness, with a focus on SAA. Methods: Mice were used to examine the effects of PICS after bon

Role of SERCA and sarcolipin in adaptive muscle remodeling.

Sarcolipin (SLN) is a small regulatory protein that inhibits the sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) pump. When bound to SERCA, SLN reduces the apparent Ca2+ affinity of SERCA and uncouples SERCA Ca2+ transport from its ATP consumption. As such, SLN plays a direct role in altering skeletal muscle relaxation and energy expenditure. Interestingly, the expression of SLN is dynamic during times of muscle adaptation, in that large increases in SLN content are found in response to development, atrophy, overload, and disease. Several groups have suggested that increases in SLN, especiall

A ubiquitous endocrine disruptor tributyltin induces muscle wasting and retards muscle regeneration.

BACKGROUND: Organotin pollutant tributyltin (TBT) is an environmental endocrine disrupting chemical and is a known obesogen and diabetogen. TBT can be detected in human following consumption of contaminated seafood or water. The decrease in muscle strength and quality has been shown to be associated with type 2 diabetes in older adults. However, the adverse effects of TBT on the muscle mass and function still remain unclear. Here, we investigated the effects and molecule mechanisms of low-dose TBT on skeletal muscle regeneration and atrophy/wasting using the cultured skeletal muscle cell and a

Exercise Preconditioning Blunts Early Atrogenes Expression and Atrophy in Gastrocnemius Muscle of Hindlimb Unloaded Mice.

A large set of FoxOs-dependent genes play a primary role in controlling muscle mass during hindlimb unloading. Mitochondrial dysfunction can modulate such a process. We hypothesized that endurance exercise before disuse can protect against disuse-induced muscle atrophy by enhancing peroxisome proliferator-activated receptor-γ coactivator-1α (PGC1α) expression and preventing mitochondrial dysfunction and energy-sensing AMP-activated protein kinase (AMPK) activation. We studied cross sectional area (CSA) of muscle fibers of gastrocnemius muscle by histochemistry following 1, 3, 7, and 14 days of

Altering aspects of mitochondrial quality to improve musculoskeletal outcomes in disuse atrophy.

Muscle atrophy is a significant moderator for disease prognosis; as such, interventions to mitigate disuse-induced muscle loss are imperative to improve clinical interventions. Mitochondrial deteriorations may underlie disuse-induced myopathies; therefore, improving mitochondrial quality may be an enticing therapeutic intervention. However, different mitochondria-based treatments may have divergent impacts on the prognosis of disuse atrophy. Therefore, the purpose of this study was to investigate different mitochondria-centered interventions during disuse atrophy in hindlimb unloaded male and

RAGE in the pathophysiology of skeletal muscle.

Emerging evidence suggests that the signalling of the Receptor for Advanced Glycation End products (RAGE) is critical for skeletal muscle physiology controlling both the activity of muscle precursors during skeletal muscle development and the correct time of muscle regeneration after acute injury. On the other hand, the aberrant re-expression/activity of RAGE in adult skeletal muscle is a hallmark of muscle wasting that occurs in response to ageing, genetic disorders, inflammatory conditions, cancer, and metabolic alterations. In this review, we discuss the mechanisms of action and the ligands

Allopurinol partially prevents disuse muscle atrophy in mice and humans.

Disuse muscle wasting will likely affect everyone in his or her lifetime in response to pathologies such as joint immobilization, inactivity or bed rest. There are no good therapies to treat it. We previously found that allopurinol, a drug widely used to treat gout, protects muscle damage after exhaustive exercise and results in functional gains in old individuals. Thus, we decided to test its effect in the prevention of soleus muscle atrophy after two weeks of hindlimb unloading in mice, and lower leg immobilization following ankle sprain in humans (EudraCT: 2011-003541-17). Our results show

Bone health in children with neuromuscular disorders.

This paper provides a broad review of bone health issues in children with neuromuscular diseases (NMD). As Duchenne muscular dystrophy is the most common neuromuscular disease of childhood, there is a strong emphasis on this. This paper reviews the incidence of fractures, the degree of the reduced bone mineral density, the risk factors associated with this common problem, and the non-pharmacological and pharmacological treatment options. Recommendations for monitoring and treatment are provided.

Emery-Dreifuss syndrome: genetic and clinical varieties.

Two familial and 2 sporadic cases of Emery-Dreifuss syndrome are reported. One family presented a rare autosomal dominant variant of Emery-Dreifuss muscular dystrophy, another with X-linked recessive inheritance showed unusual intrafamilial variability. One of sporadic cases closely resembled rigid spine syndrome, the other was clinically intermediate between Emery-Dreifuss muscular dystrophy and rigid spine syndrome, showing that they are not distinct disorders.

Cardiac and skeletal muscle delivery of biotherapeutics with a blood vessel epicardial substance-targeting peptide.

Although peptide-based delivery strategies show promise for muscle and heart diseases, delivery of biotherapeutics to both skeletal and cardiac muscles remains challenging. Here, we identified a muscle-homing peptide (BV2) against blood vessel epicardial substance (BVES) by phage display. BV2 shows high binding affinity to BVES and is internalized primarily via caveolae-mediated endocytosis. Importantly, BV2 enables efficient delivery of Duchenne Muscular Dystrophy (DMD) phosphorodiamidate morpholino oligomer (PMO), mCherry protein and exosomes to skeletal muscle and heart in vivo. BV2-mCherry

A Narrative Review of Necroptosis in Neuromuscular Junction Disorders: Pathogenesis and Therapeutic Strategies.

Necroptosis is a regulated and inflammatory form of cell death that has emerged as a key contributor to neuromuscular junction (NMJ) dysfunc … roptosis activation correlates with structural and functional deficits in conditions such as spinal muscular atrophy, amyotrophic lateral sclerosis, and Duchenne muscular dystrophy. Third, we examine the translational potential of targeting necroptosis, highlighting preclinical studies on RIPK1, RIPK3, and MLKL inhibitors. Although these findings suggest therapeut …

When barriers fail: the role of endothelial dysfunction in rare pediatric neuromuscular diseases.

Rare pediatric neuromuscular diseases represent a heterogeneous group of disorders in which endothelial dysfunction and blood-tissue barrier … elial permeability. Evidence from rare conditions such as Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), Kawasaki Disease (KD), chronic inflammatory demyelinating polyneuropathy (CIDP), and acute inflammatory demyelinating polyradiculoneuropathy (AIDP) suggests that vascular and barrier abnormalities influence disease severity. However, the prec …

Влияние регулирования разбрызгивания на нервно-мышечные расстройства и текущую нейромускульную генетическую терапию.

Эукариотические гены содержат некодирующие сегменты, известные как интроны, которые прерывают последовательности кодирования. Таким образом, эукариотическая транскрипция производит прекурсор-прекурсор РНК (до-мРНК), который основывается на точной скрещивании для удаления весьма разнообразных интронов из генома и создания зрелого mRNA, необходимого для поддержания нормальной клеточной активности. Широкая неоднородность нейронов требует сложного регулирования сплетения, особенно альтернативного сплечения, для обеспечения точности генного выражения в нейрогенессе, трансдукции сигналов и синаптиче

Совпадение в аннотации оригинала
Eukaryotic genes contain non-coding segments known as introns, which interrupt coding sequences. Consequently, eukaryotic transcription prod … ified as a contributing factor to the pathogenesis of neuromuscular disorders (NMDs) such as spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD), myotonic dystrophy (DM), Charcot-Marie-Tooth disease (CMT), myasthenia gravis (MG), and multiple sclerosis (MS). Studying the correlation between splicing defects and neu …

Severe cardiac and skeletal manifestations in DMD-edited microminipigs: an advanced surrogate for Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is an intractable X-linked muscular dystrophy caused by mutations in the DMD gene. While many animal models have been used to study the disease, translating findings to humans has been challenging. Microminipigs, with their pronounced physiological similarity to humans and notably compact size amongst pig models, could offer a more representative model for human diseases. Here, we accomplished precise DMD modification in microminipigs by co-injecting embryos with Cas9 protein and a single-guide RNA targeting exon 23 of DMD. The DMD-edited microminipigs exhibit

Neuromuscular diseases: genomics-driven advances.

Neuromuscular diseases (NMDs) are a group of rare disorders characterized by significant genetic and clinical complexity. Advances in genomi … challenges. Gene therapy has been a transformative breakthrough in the treatment of NMDs. In spinal muscular atrophy (SMA), therapies like nusinersen, onasemnogene abeparvovec, and risdiplam have dramatically improved patient outcomes. Similarly, Duchenne muscular dystrophy (DMD) has seen significant progress, most notably with the FDA approval of delandistrogene …