Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency
| العنوان: | Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency |
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| المؤلفون: | Frouwkje A. Politiek, Hans R. Waterham |
| المصدر: | Frontiers in Immunology Frontiers in Immunology, Vol 12 (2021) |
| بيانات النشر: | Frontiers Media S.A., 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Geranylgeranyl pyrophosphate, Immunology, Protein Prenylation, Inflammation, Review, Biology, chemistry.chemical_compound, isoprenoid biosynthesis, medicine, Immunology and Allergy, Humans, Genetic Association Studies, Innate immune system, Mevalonate kinase deficiency, Terpenes, Hyper-IgD syndrome, Mevalonate kinase, mevalonic aciduria, RC581-607, medicine.disease, Biosynthetic Pathways, chemistry, Mevalonic aciduria, biology.protein, Protein prenylation, hyper IgD syndrome, lipids (amino acids, peptides, and proteins), mevalonate kinase deficiency (MKD), Immunotherapy, Immunologic diseases. Allergy, medicine.symptom, Mevalonate Kinase Deficiency |
| الوصف: | Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder characterized by life-long recurring episodes of fever and inflammation, often without clear cause. MKD is caused by bi-allelic pathogenic variants in theMVKgene, resulting in a decreased activity of the encoded enzyme mevalonate kinase (MK). MK is an essential enzyme in the isoprenoid biosynthesis pathway, which generates both non-sterol and sterol isoprenoids. The inflammatory symptoms of patients with MKD point to a major role for isoprenoids in the regulation of the innate immune system. In particular a temporary shortage of the non-sterol isoprenoid geranylgeranyl pyrophosphate (GGPP) is increasingly linked with inflammation in MKD. The shortage of GGPP compromises protein prenylation, which is thought to be one of the main causes leading to the inflammatory episodes in MKD. In this review, we discuss current views and the state of knowledge of the pathogenetic mechanisms in MKD, with particular focus on the role of compromised protein prenylation. |
| اللغة: | English |
| تدمد: | 1664-3224 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35971aa21376ed960e662ca433b4213bTest http://europepmc.org/articles/PMC8446354Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....35971aa21376ed960e662ca433b4213b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 16643224 |
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