Basic information of ARSA :
| Official Symbol of Gene | ARSA |
| Species | Homo sapiens |
| Entrez Gene ID | 410 |
| Official Full Name | arylsulfatase A |
| Also known as | ASA; MLD |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000100299 MIM:607574; AllianceGenome:HGNC:713 |
| Map Location | 22q13.33 |
| Variation Type | polymorphism |
| refSNP ID | ASA-PD (N350S and 1524+95A-G) |
Sample information of multiple sclerosis:
| Detected Sample | whole blood |
| Sample Detail | N/A |
| Detected Method | PCR-RFLP |
| Disease | MS |
| Disease subtype | RRMS |
| Population | N/A |
| Sample Size | 50 RRMS patients |
Literature information of multiple sclerosis :
| Pubmed ID | 21648305 |
| Year | 2011 |
| Title | Arylsulfatase a gene polymorphisms in relapsing remitting multiple sclerosis: genotype-phenotype correlation and estimation of disease progression |
Results of multiple sclerosis :
| Risk Type | Phenotypic risk |
| Main Result | Positive |
| Result | Comparison of MR findings between MS patients, mutations carrier vs. non-carrier, matched for sex, age and disease duration, showed that the total number of lesions and the number of hypointense lesions on T1-weighted images was greater in MS patient carrying the ASA-PD mutations. |
| Mechanism/Pathway | Different levels of enzyme deficiency, due to mutations in ASA gene, could lead to long-term accumulation of non-degraded substrate and thus influence the cellular vulnerability. In multiple sclerosis, the same mechanism could underlie a death of oligodendrocyte subpopulations thus enabling liberation of myelin antigens and stimulation of immune response. |
