Home Details
| 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 |
| Detected Sample | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | PML ã€MS ã€toxoplasmosisã€cytomegalovirus infectionã€HSV1 encephalitis〠HIV infectionã€with mycosis and encephalitisã€brain abscess〠central pontine/extrapontine myelinolysis〠Wallerian degeneration ã€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 |
| Pubmed ID | 33917711 |
| Year | 2021 |
| Title | MGMT-Methylation in Non-Neoplastic Diseases of the Central Nervous System |
| 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 |

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