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Basic information of MGMT :

Official Symbol of Gene MGMT
Species Homo sapiens
Entrez Gene ID 4255
Official Full Name O-6-methylguanine-DNA methyltransferase
Also known as N/A
Gene Type protein coding
dbXrefs Ensembl:ENSG00000170430 MIM:156569; AllianceGenome:HGNC:7059
Map Location 10q26.3
Variation Type gene polymorphisms
refSNP ID N/A

Sample information of multiple sclerosis:

Detected Sample Peripheral blood
Sample Detail N/A
Detected Method PCR
Disease PML 、MS 、toxoplasmosis、cytomegalovirus infection、HSV1 encephalitis、 HIV infection、with mycosis and encephalitis、brain abscess、 central pontine/extrapontine myelinolysis、 Wallerian degeneration 、glioma
Disease subtype N/A
Population N/A
Sample Size PML (n = 10), MS (n = 28), toxoplasmosis (n = 6), cytomegalovirus infection (n = 1), HSV1 encephalitis (n = 1), HIV infection (n = 2), with mycosis and encephalitis (n = 4), brain abscess (n = 3), central pontine/extrapontine myelinolysis (n = 8), Wallerian degeneration (n = 3), or glioma (n = 71) and n = 8 samples from healthy controls

Literature information of multiple sclerosis :

Pubmed ID 33917711
Year 2021
Title MGMT-Methylation in Non-Neoplastic Diseases of the Central Nervous System

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Hence, we show for the first time that MGMT hypermethylation occurs in chronic diseases that are not strictly associated to distinct pathogens, oncogenic viruses or neoplasms but that lead to damage of the myelin sheath in various ways. While this gives new insights into epigenetic and pathophysiological processes involved in de- and remyelination, which might offer new therapeutic opportunities for demyelinating diseases in the future, it also reduces the specificity of MGMT hypermethylation as a tumor biomarker.
Result his study demonstrates for the first time that one can indeed detect slightly enhanced MGMT promoter methylation in individual cases of inflammatory demyelinating CNS diseases such as multiple sclerosis and progressive multifocal leucencephalopathy (PML), as well as in other demyelinating diseases such as central pontine and exptrapontine myelinolysis, and diseases with myelin damage such as Wallerian degeneration. In this context, we identified a reduction in the expression of the demethylase TET1 as a possible cause for the enhanced MGMT promoter methylation
Mechanism/Pathway O6 -methylguanine-DNA methyltransferase (MGMT) is an important constitutively active enzyme which is expressed in every human cell, playing a pivotal role in the cellular defense against the toxicity of alkylating substances by removing methyl groups, particularly O6 -methylguanine residues, thereby repairing alkylated DNA and preventing mismatch errors during DNA replication