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The presence of a catalyst affects the rate of a chemical reaction. A catalyst is a substance that can increase the reaction rate without being consumed during the process. A basic comprehension of a catalysts’ role during chemical reactions can be understood from the concept of reaction mechanisms and energy diagrams.
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A reversible chemical reaction represents a chemical process that proceeds in both forward (left to right) and reverse (right to left) directions. When the rates of the forward and reverse reactions are equal, the concentrations of the reactant and product species remain constant over time and the system is at equilibrium. A special double arrow is used to emphasize the reversible nature of the reaction. The relative concentrations of reactants and products in equilibrium systems vary greatly;...
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Before mRNAs are exported to the cytoplasm, it is crucial to check each mRNA for structural and functional integrity. Eukaryotic cells use several different mechanisms, collectively known as mRNA surveillance, to look for irregularities in mRNAs. Irregular or aberrant mRNA are rapidly degraded by various enzymes. If a defective mRNA escapes the surveillance, it would be translated into a protein which would either be non-functional or not function properly. One of the primary irregularities in...
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In eukaryotes, transcription and translation are compartmentalized; an mRNA is first synthesized in the nucleus and then selectively transported to the cytoplasm for protein synthesis. Before transport, a pre-mRNA undergoes several steps of post-transcriptional modifications including splicing, 5' capping, and the addition of a poly-adenine tail. Various proteins bind to the pre-mRNA during these modifications. The mRNA transport takes place with the help of multiple proteins playing...
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Monogenic lupus: Dissecting heterogeneity.

Ommar Omarjee1, Cécile Picard2, Cécile Frachette3

  • 1CIRI, Centre International de Recherche en Infectiologie/International Center for Infectiology Research, Inserm, U1111, Ecole Normale Supérieure de Lyon, Université Lyon 1, CNRS, UMR5308, Lyon, France.

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Summary
This summary is machine-generated.

Monogenic lupus, a severe autoimmune disease in children, arises from single gene mutations affecting immune cell function. Understanding these genetic defects offers insights into disease mechanisms and potential targeted therapies.

Keywords:
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Area of Science:

  • Immunology
  • Genetics
  • Rheumatology

Background:

  • Systemic lupus erythematosus (SLE) is a complex autoimmune disease with varied clinical presentations.
  • Childhood-onset SLE (cSLE) is increasingly linked to specific genetic mutations, defining Mendelian lupus.
  • Mendelian lupus provides a model for understanding SLE pathogenesis through inborn errors of immunity.

Purpose of the Study:

  • To review the literature on Mendelian lupus.
  • To discuss the physiopathological insights gained from genetic defects in SLE.
  • To highlight clinical features, biological markers, and therapeutic strategies for Mendelian lupus.

Main Methods:

  • Literature review of genetic mutations associated with Mendelian lupus.
  • Categorization of genes based on functional pathways (complement, nucleic acid metabolism, immune regulation).
  • Analysis of clinical and biological data from patients with Mendelian lupus.

Main Results:

  • Mendelian lupus genes fall into three categories: complement deficiencies, nucleic acid metabolism defects (interferonopathies), and impaired B/T cell regulation.
  • Defective efferocytosis, nucleic acid clearance, and aberrant interferon signaling are key mechanisms.
  • Mutations in PRKCD are linked to lupus and lymphoproliferative disorders due to impaired self-reactive B cell elimination.

Conclusions:

  • Mendelian lupus offers valuable insights into the genetic basis and pathophysiology of SLE.
  • Understanding these genetic contexts can guide the development of targeted therapies.
  • Further research into inborn errors of immunity is crucial for advancing SLE treatment.