Loading...
Please wait, while we are loading the content...
Aproximación genética en la esclerosis lateral amiotrófica.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Cervantes-Aragón, Iván Ramírez-García, Sergio Alberto Baltazar-Rodríguez, Luz Margarita García-Cruz, D. Castañeda-Cisneros, Gema |
| Copyright Year | 2019 |
| Abstract | The superoxide dismutase type 1 (SOD1) gene is the first responsible gene mapped in amyotrophic lateral sclerosis type 1 (ALS1), and it codes for the enzyme SOD1, the function of which is to protect against damage mediated by free radicals deriving from oxygen. Its pathophysiological mechanism in ALS1 is related to ischemia. Several molecular studies of the SOD1 gene show that point mutations are the most frequent. The most common mutations in familial cases are p.A4V, p.I113Y, p.G37R, p.D90A and p.E100G, which account for more than 80% of cases, although intronic mutations have also been described as responsible for ALS1. Sporadic cases are explained by mutations in other genes such as SETX and C9orf72. ALS1 is a complex disease with genetic heterogeneity. On the other hand, familial and sporadic cases have a different etiology, which is explained by molecular heterogeneity and multiple pathogenic mechanisms that lead to ALS1; oxidative stress and ischemia are not the only cause. In Mexico, ALS molecular genetics studies are scarce. Clinical studies show an increase in cytokines such as adipsin in cerebrospinal fluid. |
| Starting Page | 513 |
| Ending Page | 521 |
| Page Count | 9 |
| File Format | PDF HTM / HTML |
| DOI | 10.24875/gmm.19004927 |
| PubMed reference number | 31695223 |
| Journal | Medline |
| Volume Number | 155 |
| Issue Number | 5 |
| Journal | Gaceta medica de Mexico |
| Alternate Webpage(s) | http://gacetamedicademexico.com/files/gmm_19_155_5_513-521.pdf |
| Alternate Webpage(s) | https://doi.org/10.24875/gmm.19004927 |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
