Basic information of PRNP :
| Official Symbol of Gene | PRNP |
| Species | Homo sapiens |
| Entrez Gene ID | 5621 |
| Official Full Name | prion protein |
| Also known as | CJD; GSS; PrP; ASCR; KURU; PRIP; PrPc; CD230; AltPrP; p27-30; PrP27-30; PrP33-35C |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000171867 MIM:176640; AllianceGenome:HGNC:9449 |
| Map Location | 20p13 |
| Variation Type | polymorphism |
| refSNP ID | 129Val |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | N/A |
| Detected Method | TaqMan method |
| Disease | MS |
| Disease subtype | N/A |
| Population | Korean |
| Sample Size | 200 MS cases / 481 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 20592456 |
| Year | 2010 |
| Title | Lack of association between PRNP M129V polymorphism and multiple sclerosis, mild cognitive impairment, alcoholism and schizophrenia in a Korean population |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | Statistical analysis revealed no significant association between PRNP*129Val and MS. |
| Mechanism/Pathway | The methionine/valine polymorphism at codon 129 of the prion protein gene (PRNP) have been known risk factors for clinical and pathologic phenotype of both sporadic and familial forms of prion diseases. In MS, the mechanism underlying this association can be traced to the modified prion as a factor initializing immune system reactions against myelin membrane of neuronal axons. A previous study has demonstrated that methionine homozygosity at codon 129 is associated with a reduction in white matter tissue and a larger volume of cerebrospinal fluid in schizophrenic patients. |
