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Mevalonate kinase deficiency and neuroinflammation: balance between apoptosis and pyroptosis
- Source :
- International Journal of Molecular Sciences, International Journal of Molecular Sciences, Vol 14, Iss 12, Pp 23274-23288 (2013)
- Publication Year :
- 2013
-
Abstract
- Mevalonic aciduria, a rare autosomal recessive disease, represents the most severe form of the periodic fever, known as Mevalonate Kinase Deficiency. This disease is caused by the mutation of the MVK gene, which codes for the enzyme mevalonate kinase, along the cholesterol pathway. Mevalonic aciduria patients show recurrent fever episodes with associated inflammatory symptoms, severe neurologic impairments, or death, in early childhood. The typical neurodegeneration occurring in mevalonic aciduria is linked both to the intrinsic apoptosis pathway (caspase-3 and -9), which is triggered by mitochondrial damage, and to pyroptosis (caspase-1). These cell death mechanisms seem to be also related to the assembly of the inflammasome, which may, in turn, activate pro-inflammatory cytokines and chemokines. Thus, this particular molecular platform may play a crucial role in neuroinflammation mechanisms. Nowadays, a specific therapy is still lacking and the pathogenic mechanisms involving neuroinflammation and neuronal dysfunction have not yet been completely understood, making mevalonic aciduria an orphan drug disease. This review aims to analyze the relationship among neuroinflammation, mitochondrial damage, programmed cell death, and neurodegeneration. Targeting inflammation and degeneration in the central nervous system might help identify promising treatment approaches for mevalonic aciduria or other diseases in which these mechanisms are involved.
- Subjects :
- Central Nervous System
Programmed cell death
Inflammasomes
Review
Models, Biological
Catalysis
Mevalonic aciduria
NO
neuroinflammation
lcsh:Chemistry
Inorganic Chemistry
mevalonate
mevalonate kinase deficiency
medicine
Pyroptosis
Animals
Humans
apoptosis
Physical and Theoretical Chemistry
lcsh:QH301-705.5
Molecular Biology
Spectroscopy
Neuroinflammation
Mevalonate kinase deficiency
biology
Organic Chemistry
Neurodegeneration
Pyroptosi
neurodegeneration
Mevalonate kinase
Inflammasome
General Medicine
medicine.disease
apoptosi
Computer Science Applications
Oxidative Stress
Phosphotransferases (Alcohol Group Acceptor)
lcsh:Biology (General)
lcsh:QD1-999
inflammation
Caspases
Immunology
biology.protein
Mevalonate Kinase Deficiency
medicine.drug
Subjects
Details
- ISSN :
- 14220067
- Volume :
- 14
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- International journal of molecular sciences
- Accession number :
- edsair.doi.dedup.....acc096731827c03935b713c5629ba5da