This study evaluated the effectiveness of prenatal Exome Sequencing (ES) in detecting genetic abnormalities in fetuses with various ultrasound findings, even in cases where ES was not initially indicated. The researchers compared ES with chromosomal microarray analysis (CMA) to identify Copy Number Variants (CNVs) and monogenic disorders. Among 59 pregnancies, common aneuploidies were detected in 10% of cases through QF-PCR, and no pathogenic CNVs were found in the …

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Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle weakness due to the absence of dystrophin. This study investigates the disruption of autophagy, a cellular process that degrades damaged proteins and organelles, in the skeletal muscles of DMD patients and mdx mice, a common model for DMD. The research found that autophagy-related genes are significantly downregulated in dystrophin-deficient muscles, primarily due to the phosphorylation and subsequent inactivation …

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    This study investigates the critical role of the Repressor Element 1-Silencing Transcription Factor (REST), also known as Neuron-Restrictive Silencer Factor (NRSF), in maintaining the identity and function of muscle stem cells (MuSCs). MuSCs are responsible for the lifelong regeneration of skeletal muscle, and their proper function depends on the repression of non-muscle lineage genes. REST plays a key role in this process by actively silencing these genes, preventing …

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    Personal take on this article:   The article titled "Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges" is a detailed review of the current advancements in gene-targeting treatments for Spinal Muscular Atrophy (SMA), a severe genetic disorder that leads to the loss of motor neurons, causing muscle weakness, loss of mobility, and potentially death if untreated. Key points: 1. SMA Overview: SMA is caused …

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    Personal take on this article: Purpose: The study aims to evaluate glucose metabolism as a pre-clinical biomarker in the golden retriever muscular dystrophy (GRMD) model of Duchenne muscular dystrophy (DMD). Given the metabolic dysfunctions observed in DMD, such as reduced glycolytic and oxidative enzymes, decreased and abnormal mitochondria, and increased oxidative stress, the research explores molecular, biochemical, and in vivo imaging techniques to track disease progression and therapeutic …

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Personal take on this article: Abstract: This study aimed to evaluate glucose tolerance in adult males with Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) using an oral glucose tolerance test (OGTT) and to investigate whether body composition influences glucose response. The study included 28 adults with dystrophinopathy (13 BMD, 15 DMD) and 12 non-dystrophic controls who ingested 75g of glucose. Fingertip blood samples were taken at 30-minute intervals …

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  Personal take on this article: Abstract: This study investigates the transcriptional dysregulation of autophagy in the skeletal muscles of mdx mice, a well-established model for Duchenne muscular dystrophy (DMD). The primary focus is on the roles of FoxO transcription factors (FoxO1 and FoxO3a) and transcription factor EB (TFEB), which are pivotal in regulating autophagy-related genes. The findings reveal significant downregulation of these genes in dystrophin-deficient muscles due to phosphorylation-mediated …

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Abstract: Purpose: This study aims to identify hub genes and dysregulated pathways in the progression of Duchenne muscular dystrophy (DMD) and elucidate the cellular and molecular mechanisms associated with DMD to develop effective treatments. Material and Methods: Datasets: Three mRNA microarray datasets (GSE13608, GSE38417, and GSE109178) were downloaded from the Gene Expression Omnibus (GEO). Analysis Tools: The R package was used to identify differentially expressed genes (DEGs) between DMD and …

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  1. Cohort studies are a type of longitudinal study—an approach that follows research participants over a period of time (often many years). Specifically, cohort studies recruit and follow participants who share a common characteristic, such as a particular occupation or demographic similarity.   2. An exome is the sequence of all the exons in a genome, reflecting the protein-coding portion of a genome. In humans, the exome is about …

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Personal take on this article:   Summary: Duchenne muscular dystrophy (DMD) is a severe, X-linked disorder characterized by progressive muscle wasting due to mutations in the dystrophin gene. Exon-skipping therapy, utilizing antisense oligonucleotides (AOs), aims to bypass mutated exons, restoring the reading frame and enabling the production of functional dystrophin, thereby converting DMD to a milder Becker muscular dystrophy (BMD) phenotype.   1. Introduction:   - DMD is caused by …

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