Basic information of POLG :
| Official Symbol of Gene | POLG |
| Species | Homo sapiens |
| Entrez Gene ID | 5428 |
| Official Full Name | DNA polymerase gamma, catalytic subunit |
| Also known as | PEO; MDP1; SCAE; MIRAS; POLG1; POLGA; SANDO; MTDPS4A; MTDPS4B |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000140521 MIM:174763; AllianceGenome:HGNC:9179 |
| Map Location | 15q26.1 |
| Variation Type | POLG CAG repeat length |
| refSNP ID | N/A |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR-SSCP |
| Disease | MS |
| Disease subtype | RRMS, SPMS, PPMS, PRMS |
| Population | Iranian |
| Sample Size | 40 Iranian patients with MS / 47 healthy controls |
Literature information of multiple sclerosis :
| Pubmed ID | 25767537 |
| Year | 2015 |
| Title | The POLG Polyglutamine Tract Variants in Iranian Patients with Multiple Sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | In both patients and controls, there was a strong predominance of the allele 10Q.We did not find a statistically significant difference between the two studied groups.The frequency of the common POLG variant among the MS patients was 92.5%, which was similar to the control group.CAG repeat lengths ranging from 10–12 were detected, but not larger, expanded repeats were found in the control subjects and MS patients. |
| Mechanism/Pathway | Multiple Sclerosis (MS) is a chronic and a common inflammatory disorder of the central nervous system (CNS) characterized with myelin loss, progressive neurological dysfunction, gliosis, and unstable degrees of axonal pathology.Recently,other research suggests that disorders of the mitochondrial were present in patients with MS. The only known mitochondrial DNA (mtDNA) polymerase is DNA polymerase γ (POLG).The integrity of mtDNA is maintained by POLG. The length variation of the poly-Q may modulate enzyme function.Deletion analysis of the CAG repeat regions has shown that it may not effect enzymatic properties, but reasonably up-regulates the expression.This CAG repeat explanation underlies various neurodegenerative disorders. |
