期刊
FRONTIERS IN CELLULAR NEUROSCIENCE
卷 17, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fncel.2023.1110967
关键词
MMP-9; MMP-9-1562C; T polymorphism; rs3918242; brain diseases; brain
This article discusses the relationship between the functional single nucleotide polymorphism (SNP) at position -1562C/T within the MMP-9 gene and the development of nervous system diseases. The functional polymorphism affects the activity of the MMP-9 gene promoter and thereby alters the expression of MMP-9. This can change the likelihood of disease occurrence and modify the course of certain brain diseases.
Metalloproteinase-9 (MMP-9) is one of the most strongly expressed matrix metalloproteinases (MMPs) in the brain. The MMP-9 activity in the brain is strictly regulated, and any disruptions in this regulation contribute to a development of many disorders of the nervous system including multiple sclerosis, brain strokes, neurodegenerative disorders, brain tumors, schizophrenia, or Guillain-Barre syndrome. This article discusses a relationship between development of the nervous system diseases and the functional single nucleotide polymorphism (SNP) at position -1562C/T within the MMP-9 gene. A pathogenic influence of MMP-9-1562C/T SNP was observed both in neurological and psychiatric disorders. The presence of the allele T often increases the activity of the MMP-9 gene promoter and consequently the expression of MMP-9 when compared to the allele C. This leads to a change in the likelihood of an occurrence of diseases and modifies the course of certain brain diseases in humans, as discussed below. The presented data indicates that the MMP-9-1562C/T functional polymorphism influences the course of many neuropsychiatric disorders in humans suggesting a significant pathological role of the MMP-9 metalloproteinase in pathologies of the human central nervous system.
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