Inhibition of MAT2A Impairs Skeletal Muscle Repair Function.

The regenerative capacity of muscle, which primarily relies on anabolic processes, diminishes with age, thereby reducing the effectiveness of therapeutic interventions aimed at treating age-related muscle atrophy. In this study, we observed a decline in the expression of methionine adenosine transferase 2A (MAT2A), which synthesizes S-adenosylmethionine (SAM), in the muscle tissues of both aged humans and mice. Considering MAT2A's critical role in anabolism, we hypothesized that its reduced expression contributes to the impaired regenerative capacity of aging skeletal muscle.

Clinical and genetic analysis of two phenotypically normal families carrying 4p16.1 microduplications.

Objective: To help determine the pathogenicity of 4p16.1 microduplications, we reported two asymptomatic families carrying this variation.

Case Report: We present the prenatal diagnosis and genetic analysis of two normal families with 4p16.

Histone β-hydroxybutyrylation is critical in reversal of sarcopenia.

Sarcopenia, a leading cause for global disability and mortality, is an age-related muscular disorder, characterized by accelerated muscle mass loss and functional decline. It is known that caloric restriction (CR), ketogenic diet or endurance exercise lessen sarcopenia and elevate circulating β-hydroxybutyrate (β-HB) levels. Whether the elevated β-HB is essential to the reversal of sarcopenia, however, remains unclear.

The role of TGF-β signaling in muscle atrophy, sarcopenia and cancer cachexia.

Skeletal muscle, comprising a significant proportion (40 to 50 percent) of total body weight in humans, plays a critical role in maintaining normal physiological conditions. Muscle atrophy occurs when the rate of protein degradation exceeds protein synthesis. Sarcopenia refers to age-related muscle atrophy, while cachexia represents a more complex form of muscle wasting associated with various diseases such as cancer, heart failure, and AIDS.

Integrated Amino Acids and Transcriptome Analysis Reveals Arginine Transporter SLC7A2 Is a Novel Regulator of Myogenic Differentiation.

Skeletal muscle differentiation is a precisely coordinated process. While many of the molecular details of myogenesis have been investigated extensively, the dynamic changes and functions of amino acids and related transporters remain unknown. In this study, we conducted a comprehensive analysis of amino acid levels during different time points of C2C12 myoblast differentiation using high-performance liquid chromatography (HPLC).

Handelin alleviates cachexia- and aging-induced skeletal muscle atrophy by improving protein homeostasis and inhibiting inflammation.

Background: Handelin is a bioactive compound from Chrysanthemum indicum L. that improves motor function and muscle integrity during aging in Caenorhabditis elegans. This study aimed to further evaluate the protective effects and molecular mechanisms of handelin in a mouse muscle atrophy model induced by cachexia and aging.

Extended application of BACs-on-Beads technique in prenatal diagnosis.

Introduction: This study explored the application of bacterial artificial chromosomes (BACs)-on-Beads (BoBs) technique, especially its ability to detect microdeletion/microduplication regions with a single probe.

Methods: Both chromosome karyotyping and BoBs technique were applied on a total of 2218 pregnant women. Chromosome microarray analysis (CMA) was performed on patients whose cells were reported as being abnormal by BoBs technique with a single probe.

[Analysis of SUOX gene variants and clinical features in a child with Isolated sulfite oxidase deficiency].

Objective: To explore the clinical features and genetic basis for a child with early-onset Isolated sulfite oxidase deficiency (ISOD).

Methods: A child with ISOD who was admitted to Weihai Hospital Affiliated to Qingdao University on May 10, 2020 was selected as the study subject. Clinical data of the child was analyzed.

The highest-elevation frog provides insights into mechanisms and evolution of defenses against high UV radiation.

Defense against ultraviolet (UV) radiation exposure is essential for survival, especially in high-elevation species. Although some specific genes involved in UV response have been reported, the full view of UV defense mechanisms remains largely unexplored. Herein, we used integrated approaches to analyze UV responses in the highest-elevation frog, .

Handelin extends lifespan and healthspan of Caenorhabditis elegans by reducing ROS generation and improving motor function.

Aging and aging-related disorders contribute to formidable socioeconomic and healthcare challenges. Several promising small molecules have been identified to target conserved genetic pathways delaying aging to extend lifespan and healthspan in many organisms. We previously found that extract from an edible and medicinal plant Chrysanthemum indicum L.

Isolation and characterization of the major centipede allergen Sco m 5 from Scolopendra subspinipes mutilans.

Background: Allergic reactions have been observed following both direct centipede bites and the clinical use of centipede-containing medicines, such as traditional Chinese medicines utilizing Scolopendra subspinipes mutilans; however, no natural centipede allergen has yet been characterized.

Methods: An allergen was purified from S. s.

Comparative analysis of diverse toxins from a new pharmaceutical centipede, .

As the oldest venomous animals, centipedes use their venom as a weapon to attack prey and for protection. Centipede venom, which contains many bioactive and pharmacologically active compounds, has been used for centuries in Chinese medicine, as shown by ancient records. Based on comparative analysis, we revealed the diversity of and differences in centipede toxin-like molecules , a substitute pharmaceutical material used in China, and .

Case report: Novel GJB2 variant c.113T>C associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Han family.

Rationale: Molecular mechanism underlying the autosomal recessive non-syndromic hearing loss (ARNSHL) is still plausible. Pathogenic mutations of the gap junction beta 2 protein (GJB2) are reported to be the primary causes of ARNSHL.

Patient Concerns: A propositus was diagnosed as ARNSHL with bilateral congenital profound hearing loss.

[Analysis of GJB2, SLC26A4, GJB3 and 12S rRNA gene mutations among patients with nonsyndromic hearing loss from eastern Shandong].

Objective: To explore the characteristics of mutations of four common pathogenic genes (GJB2, SLC26A4, GJB3 and 12S rRNA) among patients with nonsyndromic hearing loss (NSHL) from eastern Shandong.

Methods: Peripheral blood samples of 420 NSHL patients were collected, and a hereditary-deafness-gene microarray was used to detect GJB2 c.235delC, c.

King cobra peptide OH-CATH30 as a potential candidate drug through clinic drug-resistant isolates.

Cationic antimicrobial peptides (AMPs) are considered as important candidate therapeutic agents, which exert potent microbicidal properties against bacteria, fungi and some viruses. Based on our previous findings king cobra cathelicidin (OH-CATH) is a 34-amino acid peptide that exerts strong antibacterial and weak hemolytic activity. The aim of this research is to evaluate the efficacy of both OH-CATH30 and its analog D-OH-CATH30 against clinical isolates comparing with routinely utilized antibiotics in vitro.

Proteotranscriptomic Analysis and Discovery of the Profile and Diversity of Toxin-like Proteins in Centipede.

Centipedes are one of the oldest venomous animals and use their venoms as weapons to attack prey or protect themselves. Their venoms contain various components with different biomedical and pharmacological properties. However, little attention has been paid to the profiles and diversity of their toxin-like proteins/peptides.

[Application of ROC curve for evaluation of the effect of prenatal screening during second trimester of pregnancy].

Objective: To develop a method for evaluating the feasibility of prenatal screening using local median value and determining the cut-off value.

Methods: With receiver operating characteristic curve (ROC) analysis, results of second trimester prenatal screening calculated by a local median value in a new model and the built-in median value in 2T software were compared. The cut-off value was set by serial analysis of true and false positive rates and other relevant data.

[Establishment of median values for second trimester maternal serum biomarkers in Weihai region].

Objective: To establish the median values for second trimester biomarkers in Weihai region, and to assess its value for improving the performance and efficiency of prenatal screening.

Methods: Maternal serum alpha-fetoprotein (AFP) and free beta human chorionic gonadotropin (Free beta-hCG) were determined for 24 400 pregnant women at 105 to 146 gestational days. A regression equation was derived after adjusting for different gestational ages.