Late‐Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review

Molecular Genetics & Genomic Medicine, Journal Year: 2025, Volume and Issue: 13(2)

Published: Jan. 29, 2025

ABSTRACT Background Krabbe disease (KD; globoid cell leucodystrophy) is a rare autosomal recessive lipid storage disorder that affects the white matter of peripheral and central nervous. Late‐onset KD less frequently diagnosed often presents with milder symptoms, making accurate diagnosis challenging, especially when distinguishing it from neuropathy. In this report, we present two cases late‐onset in Chinese family. The first case involves 25‐year‐old female who sought treatment due to long‐standing spastic gait deformities her lower limbs. A muscle biopsy revealed atrophy, electromyography indicated neurogenic damage. Her 27‐year‐old sister (Case 2) exhibited similar limb weakness, along more severe neurological symptoms. Methods patients' blood was retained for galactocerebrosidase (GALC) enzyme activity assaying whole exome gene sequencing. Results GALC showed decreased sequencing homozygous mutation p.L634S (c.1901T>C) cases. Conclusion This study broadens scope considering patients presenting weakness

Language: Английский

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Targeting cardiotoxicity: the potential of Annona squamosa L. in doxorubicin therapy

In Silico Pharmacology, Journal Year: 2025, Volume and Issue: 13(1)

Published: March 17, 2025

Language: Английский

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Multifaceted Biological Spectra of Tandyukisin Against Breast Cancer: Targeting ERBB2 Signaling and Beyond

Peptide Science, Journal Year: 2025, Volume and Issue: 117(3)

Published: May 1, 2025

ABSTRACT Breast cancer remains a leading cause of mortality among women aged 45–55, driven by factors such as hormonal imbalances, iodine deficiency, and aging. Significant side effects collateral damage to healthy tissues limit the effectiveness current treatments, surgery, chemotherapy, radiation therapy. Tandyukisin, marine‐derived compound, shows potential novel therapeutic agent targeting drug‐resistant EGFR HER2 mutations. This study investigates Tandyukisin against breast through network pharmacology, molecular docking, dynamics simulations, focusing on its interactions with ERBB2 associated signaling pathways. Potential cancer‐specific targets for were identified SwissTargetPrediction GeneCards databases, overlaps analyzed using Venny 2.1. Functional enrichment protein–protein interaction analyses conducted STRING Cytoscape version 3.10.3. Molecular docking was performed AutoDock Vina assess binding affinity ERBB2, while simulations evaluated stability conformational Tandyukisin‐ERBB2 complexes. 27 cancer‐relevant proteins, prominently ERBB2. analysis revealed role in apoptotic regulation critical pathways like PI3K‐Akt MAPK. In addition, demonstrated strong stable showed complex atomic deviation residual fluctuation, confirming enhanced stability. Additionally, pathway Tandyukisin's disruption resistance VEGF signaling, emphasizing multifactorial anti‐tumor effects. exhibits promising efficacy selectively modulating key pathways, minimizing off‐target Its specificity position it candidate advanced therapy, addressing drug improving outcomes. Further experimental validation is required substantiate these findings.

Language: Английский

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Neuroinflammation mediates the progression of neonate hypoxia-ischemia brain damage to Alzheimer’s disease: a bioinformatics and experimental study

Frontiers in Aging Neuroscience, Journal Year: 2025, Volume and Issue: 16

Published: Jan. 13, 2025

Traumatic brain injury (TBI) can generally be divided into focal damage and diffuse damage, neonate Hypoxia-Ischemia Brain Damage (nHIBD) is one of the causes damage. Patients with nHIBD are at an increased risk developing Alzheimer's disease (AD). However, shared pathogenesis patients affected both neurological disorders has not been fully elucidated. We here aim to identify molecular signatures between AD. used integrated analysis cortex gene expression data, targeting differential genes related mechanisms neurodegeneration cognitive impairment following traumatic injury. The profiles (GSE203206) that Neonate (GSE23317) were obtained from Gene Expression Omnibus (GEO) database. After identifying common differentially expressed (DEGs) by limma package analysis, five kinds analyses performed on them, namely Ontology (GO) pathway enrichment protein-protein interaction network, DEG-transcription factor interactions DEG-microRNA interactions, protein-drug protein-disease association gene-inflammation protein-inflammation analysis. In total, 12 DEGs identified including HSPB1, VIM, MVD, TUBB4A, AACS, ANXA6, DIRAS2, RPH3A, CEND1, KALM, THOP1, AREL1. also 11 hub proteins, three central regulatory transcription factors, microRNAs encoded DEGs. Protein-drug showed CYC1 UQCRFS1 associated different drugs. Gene-disease shows Mammary Neoplasms, Neoplasm Metastasis, Schizophrenia, Ischemia diseases most relevant proteins we identified. Gene-inflammation AREL1 inflammatory response, while AKT1 MAPK14 response. This study provides new insights AD nHIBD. These pathways could potentially design therapeutic interventions, reducing likelihood development in survivors neonatal Hypoxic-Ischemia

Language: Английский

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Integrative in silico and in vivo Drosophila model studies reveal the anti-inflammatory, antioxidant, and anticancer properties of red radish microgreen extract

Scientific Reports, Journal Year: 2025, Volume and Issue: 15(1)

Published: May 27, 2025

Language: Английский

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