Charcot-Marie-Tooth Disease (CMT) is the most common clinical genetic disease of the peripheral nervous system. Although many studies have focused on elucidating the pathogenesis of CMT, few focuses on achieving a systematic analysis of biology to decode the underlying pathological molecular mechanisms and the mechanism of its disease remains to be elucidated. So our study may provide further useful insights into the molecular mechanisms of CMT based on a systematic bioinformatics analysis. In the current study, by reviewing the literatures deposited in PUBMED, we identified 100 genes genetically related to CMT. Then, the functional features of the CMT-related genes were examined by R software and KOBAS, and the selected biological process crosstalk was visualized with the software Cytoscape. Moreover, CMT specific molecular network analysis was conducted by the Molecular Complex Detection (MCODE) Algorithm. The biological function enrichment analysis suggested that myelin sheath, axon, peripheral nervous system, mitochondrial function, various metabolic processes, and autophagy played important roles in CMT development. Aminoacyl-tRNA biosynthesis, metabolic pathways, and vasopressin-regulated water reabsorption were significantly enriched in the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway network, suggesting that these pathways may play key roles in CMT occurrence and development. According to the crosstalk, the biological processes could be roughly divided into a correlative module and two separate modules. MCODE clusters showed that in top 3 clusters, 13 of CMT-related genes were included in the network and 30 candidate genes were discovered which might be potentially related to CMT. The study may help to update the new understanding of the pathogenesis of CMT and expand the potential genes of CMT for further exploration.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7532371 | PMC |
http://dx.doi.org/10.1155/2020/1353516 | DOI Listing |
J Pediatr Orthop
January 2025
Jackie and Gene Autry Orthopedic Center, Children's Hospital Los Angeles, Los Angeles, CA.
Background: Orthopaedic surgical intervention in children with Charcot-Marie-Tooth (CMT) often includes triceps surae lengthening (TSL) and foot procedures to address instability and pain due to equinus and cavovarus deformities. These surgeries may unmask underlying weakness in this progressive disease causing increased calcaneal pitch and excessive dorsiflexion in terminal stance leading to crouch. The purpose of this study was to evaluate changes in ankle function during gait following TSL surgery in children with CMT.
View Article and Find Full Text PDFVet J
January 2025
Laboratory of Veterinary Histopathology, Pathogenetic and Preventive Veterinary Science, Joint Faculty of Veterinary Medicine, National University Corporation Kagoshima University, 1-21-24 Korimoto, Kagoshima 890-8580, Japan.
Canine mammary tumors (CMTs) are common tumors in female dogs (FDs), and at least nearly half of these lesions of malignant. We examined the epidemiology of CMTs in Japan using excisional biopsy cases (n = 7802) collected from 2005 to 2023 in the Kyushu-Okinawa region. We investigated the prevalence, effects of breed, neutering, and age on CMT and malignant CMT (mCMT) risk through general statistics and multivariate analyses.
View Article and Find Full Text PDFSmall
January 2025
College of Osteopathic Medicine, Liberty University, Lynchburg, VA, 24502, USA.
Using a combined top-down (i.e., operator-directed) and bottom-up (i.
View Article and Find Full Text PDFIntroduction: This study aimed to identify cognitive tests that optimally relate to tau positron emission tomography (PET) signal in the inferior temporal cortex (ITC), a neocortical region associated with early tau accumulation in Alzheimer's disease (AD).
Methods: We analyzed cross-sectional data from the harvard aging brain study (HABS) (= 128) and the Anti-Amyloid Treatment in Asymptomatic Alzheimer's (A4) study (= 393). We used elastic net regression to identify the most robust cognitive correlates of tau PET signal in the ITC.
Our research on the expression and characterization of exosomal miRNAs in buffalo milk, particularly in the context of healthy, sub-clinical mastitis and pasteurized milk, is a novel contribution to the field. We are the first to investigate the expressions of miRNAs and the characterization of exosomes in boiled and pasteurized milk. This study is based on clinical signs and CMT, where twenty buffalo milk samples were divided into normal and sub-clinical mastitis and a third group of ten commercial pasteurized milk.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!