BTK mutations selectively regulate BTK expression and upregulate monocyte XBP1 mRNA in XLA patients
| Autor: | Beatriz Mariana Abramczuk, Maria Marluce dos Santos Vilela, Marcelo Ananias Teocchi, Vanessa Domingues Ramalho, Lília D'Souza-Li |
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| Rok vydání: | 2014 |
| Předmět: |
Messenger RNA
XBP1 biology X-linked agammaglobulinemia Endoplasmic reticulum Immunology interleukin 6 medicine.disease Molecular biology Downregulation and upregulation immune system diseases HSP90B1 hemic and lymphatic diseases biology.protein medicine Unfolded protein response Endoplasmic reticulum stress Immunology and Allergy Bruton's tyrosine kinase unfolded protein response (UPR) Gene Original Research |
| Zdroj: | Immunity, Inflammation and Disease |
| ISSN: | 2050-4527 |
| Popis: | Mutations in the Bruton agammaglobulinemia tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA). Unfolded or misfolded proteins can trigger stress pathways in the endoplasmic reticulum (ER), known as unfolded protein response (UPR). The aim was to clarify the involvement of UPR in XLA pathophysiology. By reverse transcription-quantitative PCR, we evaluated the expression of BTK and 12 UPR-related genes in eight patients. Moreover, we assessed the BTK protein expression and pattern in the patients' monocytes by flow cytometry and fluorescence immunocytochemistry. We found a reduced BTK expression in patients with stop codon mutations (P |
| Databáze: | OpenAIRE |
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