The subterranean blind mole rat, , has evolved significantly over 47 million years to thrive in its underground habitat. A key enzyme in this adaptation is heparanase, which degrades heparan sulfate (HS) in the extracellular matrix (ECM), facilitating angiogenesis and releasing growth factors for endothelial cells. heparanase has various splice variants influencing tumor growth and metastasis differently. We report a novel splice variant from a hypoxia-exposed kidney sample resulting from exon 12 skipping. This variant maintains the translation frame but lacks enzymatic activity, offering insights into 's unique adaptations.
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http://dx.doi.org/10.3390/genes15081039 | DOI Listing |
Cerebellum
December 2024
Department of Neurology, Ramaiah Medical College and Hospitals, Ramaiah University of Applied Sciences, Bengaluru, India.
Spinocerebellar ataxias (SCAs) are a diverse and heterogeneous group of inherited neurodegenerative disorders marked by progressive ataxia and cerebellar degeneration. This case report details an 11-year-old Indian boy with childhood-onset ataxia and severe sensorineural hearing loss, a rarely reported concomitance in pediatric neurology. Genetic analysis identified a unique heterozygous 3' splice site variant in the PNPT1 gene (c.
View Article and Find Full Text PDFFront Immunol
December 2024
Institute of Clinical Molecular Biology, University Hospital Schleswig-Holstein (UKSH) and Christian-Albrechts-University of Kiel, Kiel, Germany.
Kell is one of the most complex blood group systems, with a highly polymorphic genetic background. Extensive allelic variations in the gene affect the encoded erythrocyte surface protein Kell. Genetic variants causing aberrant splicing, premature termination of protein translation, or specific amino acid exchanges lead to a variety of different phenotypes with altered Kell expression levels or changes in the antigenic properties of the Kell protein.
View Article and Find Full Text PDFClin Genet
December 2024
IBMC-Institute for Molecular and Cell Biology, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
Hereditary spastic paraplegias (HSP) are a diverse group of neurodegenerative diseases characterized by lower limb spasticity and weakness. To date, over 80 genes have been associated with HSP, but many families remain without a molecular diagnosis. In this study, linkage analysis and whole-exome sequencing (WES) were performed to identify the causal gene in a HSP family with autosomal recessive inheritance.
View Article and Find Full Text PDFTrifunctional protein deficiency (TFP) is a disorder of fatty acid beta-oxidation associated with metabolic, cardiac, and liver dysfunction in severe forms. We present two siblings diagnosed by newborn screening and confirmed by biochemical testing at birth. Their clinical course was complicated by recurrent rhabdomyolysis, retinopathy, and hypoparathyroidism.
View Article and Find Full Text PDFInt Immunopharmacol
December 2024
Department of Emergency, Kashi Prefecture Second People's Hospital, Uygur Autonomous Region Kashi, Xinjiang, 844000, China; Department of Emergency, Shanghai Tenth People's Hospital, School of Medicine Tongji University, Shanghai 200072, China. Electronic address:
Background: Sepsis represents a critical health crisis often leading to the failure of multiple organs, with the liver playing a pivotal role in controlling inflammation and defending against systemic infections. The exacerbation of liver damage can escalate sepsis severity, underscoring the necessity to delve into the molecular mechanisms underlying sepsis-induced acute liver injury (ALI). The role of alternative splicing (AS), a complex post-transcriptional mechanism, has been occasionally noted in relation to sepsis across different investigations.
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