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The heart employs a specialized ribosome in its muscle cells to translate genetic information into proteins, a fundamental adaptation with an elusive physiological role. Its significance is underscored by the discovery of neonatal patients suffering from often fatal heart failure caused by rare compound heterozygous variants in RPL3L, a muscle-specific ribosomal protein that replaces the ubiquitous RPL3 in cardiac ribosomes. -linked heart failure represents the only known human disease arising from mutations in tissue-specific ribosomes, yet the underlying pathogenetic mechanisms remain poorly understood despite an increasing number of reported cases.
View Article and Find Full Text PDFUnusual Co-Occurrence of Multiple Myeloma and AML in a Patient With Germline CEBPA Variant. Expanding the Spectrum of Hereditary Hematologic Malignancies.
Clin Genet
January 2025
Laboratorio de Citometría y Biología Molecular, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay.
Timeline and genetic analysis of a 55-year-old female with a family history of gastric cancer and multiple myeloma, who was diagnosed with AML and a germline CEBPA variant.
View Article and Find Full Text PDFHemophagocytic lymphohistiocytosis as the initial manifestation of bone marrow failure in a child with a TERC variant telomere biology disorder.
Ther Adv Rare Dis
January 2025
Department of Pediatrics, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru.
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening systemic hyperinflammatory syndrome, rarely associated with bone marrow failure (BMF). Telomere biology disorders (TBD) are caused by inherited defects in telomerase processes and can have heterogeneous presentations including idiopathic pulmonary fibrosis, cirrhosis, and BMF. We report a case of a 10-year-old male from Lima, Peru, who presented with HLH as the initial manifestation of a TBD.
View Article and Find Full Text PDFAn intron-split microRNA mediates cleavage of the mRNA encoded by low phosphate root in Solanaceae.
Planta
January 2025
School of Biological Sciences, University of East Anglia, Norwich Research Park, Norwich, UK.
A microRNA with a non-canonical precursor structure harbours an intron in between its miRNA-5p and miRNA-3p relevant for its biogenesis, is conserved across Solanaceae, and targets the mRNA of low phosphate root. Hundreds of miRNAs have been identified in plants and great advances have been accomplished in the understanding of plant miRNA biogenesis, mechanisms and functions. Still, many miRNAs, particularly those with less conventional features, remain to be discovered.
View Article and Find Full Text PDFHypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report.
BMC Med Genomics
January 2025
Laboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco.
Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. This disorder is characterized by impaired glycogenolysis and gluconeogenesis, resulting in clinical and metabolic manifestations. We report a three-month-old Moroccan female patient presenting with doll-like facies, hepatomegaly, dysmorphic features, and developmental delays.
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