Gender differences in tibial fractures healing in normal and muscular dystrophic mice.

In conclusion, male mice formed larger bone calluses than females during tibial fracture healing for both WT and mdx mice. This may be attributed to higher IGF-1 expression, activation of Wnt/β-catennin signaling pathway and greater OB numbers during callus formation. Female mice achieved better bone remodeling in the regenerated bone with higher bone quality due to increased OC numbers that promote faster remodeling of the fracture calluses, and higher BMP-9 expression levels. Therefore, gender is one of many factors that need to be considered for both animal and human bone research. PMID: 32655796 [PubMed]
Source: American Journal of Translational Research - Category: Research Tags: Am J Transl Res Source Type: research

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Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic neuromuscular disorder. The variability in neurologic deficits in DMD patients may be explained by the fact that (1) dystrophin containing complexes in the brain are more stable than dystrophin containing complexes in the muscle (2) neurons are not affected by the same stresses as muscle and (3) neurons have a greater capacity to buffer increases in intracellular calcium levels. In the muscle, the loss of dystrophin and subsequent loss of dystrophin-associated proteins (DAPs) affects the stability of the dystrophin-glycoprotein complex and calcium ion chann...
Source: NeuroReport - Category: Neurology Tags: Neurodegeneration Source Type: research
The LAMA2 gene encodes laminin α2, which is one of the three constituents of laminin-α2β1γ1 [1,2]. LAMA2 pathogenic variants cause a spectrum of rare autosomal recessive muscular dystrophy known as LAMA2-related muscular dystrophy (LAMA2-MD), classified into early-onset congenital muscular dystrophy type 1A (MDC1A) and late-o nset autosomal recessive limb-girdle muscular dystrophy-23 (LGMDR23) [3,4].
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Int J Mol Med. 2021 Nov;48(5):203. doi: 10.3892/ijmm.2021.5036. Epub 2021 Sep 22.ABSTRACTCalpains are a family of Ca2+‑dependent cysteine proteases that participate in various cellular processes. Calpain 3 (CAPN3) is a classical calpain with unique N‑terminus and insertion sequence 1 and 2 domains that confer characteristics such as rapid autolysis, Ca2+‑independent activation and Na+ activation of the protease. CAPN3 is the only muscle‑specific calpain that has important roles in the promotion of calcium release from skeletal muscle fibers, calcium uptake of sarcoplasmic reticulum, muscle formation and muscle remo...
Source: International Journal of Molecular Medicine - Category: Molecular Biology Authors: Source Type: research
This study aimed to investigate femoral morphological characteristics of lack of dystrophin in MDX mice, considering that this model, different from DMD patient, is not influenced by corticosteroids administration and limited ambulation.Materials and methodsProximal femur of male 16-week-old Control and MDX mice were submitted to histological, morphometric (volume density of articular cartilage, compact bone, trabecular bone and bone marrow; articular cartilage layers area; articular cartilage cell area), and immunohistochemistry analysis for RUNX-2, RANK-L, MMP-2, MMP-9, Caspase-3 and KI-67.ResultsMDX showed loss of linea...
Source: Journal of Bone and Mineral Metabolism - Category: Orthopaedics Source Type: research
CONCLUSIONS: Gait, notably speed, step length, and width are clinically significant biomarkers of disease in paediatric NMDs, affording objective functional measures in clinical settings and research.Implications for rehabilitationGait should be considered a functional biomarker of disease in children and young people with neuromuscular disorders (NMDs).Comparison of gait in a paediatric neuromuscular cohort indicates that children with Duchenne muscular dystrophy (DMD) walk slowest with a shorter step length and a wider step width which increases with age and disease progression.Measurement of gait speed is a simple, prag...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Source Type: research
A new class of therapies based on transfer RNA could treat forms of cystic fibrosis, muscular dystrophy, genetic epilepsies, and more
Source: Chemical and Engineering News - Category: Chemistry Authors: Source Type: research
COL6-related dystrophies are a form of congenital muscular dystrophy, ranging in phenotype from the severe Ullrich congenital muscular dystrophy (UCMD) to the milder Bethlem muscular dystrophy with intermediate COL6-RD falling in between. COL6-RDs display well-known patterns on muscle MRI including a "central cloud" and "rimming" in the rectus femoris muscle and an "outside-in" pattern in the vastus lateralis muscle; however, MRI cannot routinely be performed in young children without sedation. We conducted a retrospective review of muscle ultrasound (US) performed in our cohort of genetically...
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Collagen VI is an extracellular matrix protein. A common recurrent dominant-negative deep intronic C>T mutation in the COL6A1 gene inserts a 72-nucleotide-long pseudoexon between exons 11 and 12 in 50% of the pathogenic variant's allele transcripts. This mutation causes Ullrich congenital muscular dystrophy with early-onset muscle weakness, joint contractures, and respiratory insufficiency. Using CRISPR/Cas9 technology, we have generated a humanized knock-in mouse model carrying either the human wild type (HumC) or mutant (HumT) alleles to investigate this variant's pathophysiology and to test splice-correction therapies in vivo.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
We present a new phenotype of collagen VI-related disease with predominantly axonal neuropathy.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Mutations in the Col6 genes (COL6A1, COL6A2 and COL6A3) cause a clinically and genetically heterogeneous group of rare diseases (Bethlem myopathy, BM; Ullrich congenital muscular dystrophy, UCMD; intermediate phenotypes), which are collectively known as the COL6-related muscle diseases (COL6-MDs). The Global Registry for COL6-related muscle disease allows secure capture and storage of data from individuals affected with a COL6-MD and from the medical professionals in charge of their care. The primary objectives of the registry are to: contribute to trial readiness of COL6-MDs, allowing identification of genetically well ch...
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
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