Basic information of PNMT :
| Official Symbol of Gene | PNMT |
| Species | Homo sapiens |
| Entrez Gene ID | 5409 |
| Official Full Name | phenylethanolamine N-methyltransferase |
| Also known as | PENT; PNMTase |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000141744 MIM:171190; AllianceGenome:HGNC:9160 |
| Map Location | 17q12 |
| Variation Type | polymorphism |
| refSNP ID | G (-387)/A (-387) and G (-182)/A (-182) |
Sample information of multiple sclerosis:
| Detected Sample | brain |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | non-Hispanic Caucasians |
| Sample Size | 108 MS/774 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 11958827 |
| Year | 2002 |
| Title | Association between the phenylethanolamine N-methyltransferase gene and multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | In subjects with MS, significant differences in the frequency of the GG genotype at the G-387A marker and the AA genotype at the G-182A marker were observed. Additionally, when both markers were combined and evaluated, highly significant differences between the polymorphism distributions in patients with MS and control subjects were detected. The data suggest that these promoter polymorphisms of the PNMT gene, both independently and cumulatively, show association with MS. |
| Mechanism/Pathway | PNMT is a specific marker for adrenergic neurons and nerve fibers because it mediates the conversion of norepinephrine (NE) to epinephrine (EPI), suggesting that PNMT is an important enzyme in the metabolism of both of these neurotransmitters. In MS, the immune system mistakenly attacks self-molecules found within the brain and spinal cord. Cytokines are thought to play an intimate role in the progression of these biological effects on the CNS. |
