Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Published: October 2010
AI Article Synopsis
Article Abstract
Chanarin-Dorfman syndrome (CDS) is an autosomal recessive metabolic disorder associated with congenital ichthyosis and a multisystemic accumulation of neutral lipids in various types of cells. Recently, mutations of the ABHD5 gene were identified as the cause of CDS. In this work, we carried out molecular analysis of the ABHD5 gene in 6 unrelated patients. We identified one previously reported mutation, N209X and two novel genetic alterations; a nonsense mutation (p.Y50X) and missense mutation (p.S73A).
Key Laboratory for Aquatic Germplasm Innovation and Utilization of Jiangxi Province, School of Life Sciences, Nanchang University, Nanchang 330031, China.
Hibernation helps animals conserve energy by lowering their metabolic rate and aids survival in tough conditions, but the details of energy adaptation in hibernating ectotherms are still debated.
The study found decreased lipid levels and metabolism-related gene expression during hibernation, leading to reduced fat cell sizes and lipid content in the liver, along with lower serum lipid levels and increased glucose.
Transcriptomic and lipidomic analyses showed a suppression of lipid metabolism pathways and genes tied to fat breakdown (lipolysis) during hibernation, enhancing our understanding of how these animals adapt their energy use for survival.
Medicine Research Institute/Hubei Key Laboratory of Diabetes and Angiopathy, Xianning Medical College, Hubei University of Science and Technology, Xianning, 437100, Hubei, People's Republic of China.
Objectives: Immune regulation is a pivotal factor in the pathogenesis and repair of spinal cord injury (SCI). This study aims to explore potential immune center genes associated with spinal cord injury.
Methods: The public data set GSE151371 was obtained from the GEO database.
Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Institute of Urology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, China.
Background: Increased activity of the transcription factor FOXC1 leads to elevated transcription of target genes, ultimately facilitating the progression of various cancer types. However, there are currently no literature reports on the role of FOXC1 in renal cell carcinoma.
Methods: By using RT-qPCR, immunohistochemistry and Western blotting, FOXC1 mRNA and protein expression was evaluated.
Recent studies increasingly suggest a connection between lipids and idiopathic pulmonary fibrosis (IPF). This study was aimed at exploring potential lipid-related biomarkers for IPF and uncovering the mechanisms underlying pulmonary fibrosis. IPF-related datasets were retrieved from the GEO database, and the ComBat algorithm was used to merge multiple datasets and eliminate batch effects.
Chanarin-Dorfman syndrome (CDS) is a multisystem autosomal recessive disorder due to variants of the ABHD5 gene, characterized by lipid vacuoles in the liver and leukocytes, and possible involvement of eyes, ears, skeletal muscle, and central nervous system. CDS may present with skin changes, most commonly congenital non- bullous ichthyosiform erythroderma, however erythrokeratoderma-like findings have been rarely reported in CDS patients. Herein, we report clinical, histopathological and genetic findings of four patients with CDS presenting with different clinical forms of erythrokeratoderma (three with progressive symmetric erythrokeratoderma-like features and one with erythrokeratoderma variabilis (EKV)-like features), including one patient with a novel mutation in ABHD5.
