Pub. Date : 2012 Jun
PMID : 22261759
6 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals. | Succinic Acid | phosphatase and tensin homolog | Homo sapiens |
| 2 | We hypothesized that succinate accumulation may be common among individuals with SDH variants/mutations and those with PTEN mutations. | Succinic Acid | phosphatase and tensin homolog | Homo sapiens |
| 3 | RESULTS: Elevated plasma succinate was observed in 13/21 (62%) individuals with germline PTEN, SDHB, or SDHD mutations as compared with 5/32 (16%) controls (P < 0.001), in 10/15 (67%) individuals with pathogenic PTEN mutations but in <20% of mutation-negative individuals meeting identical criteria, and in individuals with mutations in SDHB (1/1, 100%) and SDHD (2/5, 40%). | Succinic Acid | phosphatase and tensin homolog | Homo sapiens |
| 4 | RESULTS: Elevated plasma succinate was observed in 13/21 (62%) individuals with germline PTEN, SDHB, or SDHD mutations as compared with 5/32 (16%) controls (P < 0.001), in 10/15 (67%) individuals with pathogenic PTEN mutations but in <20% of mutation-negative individuals meeting identical criteria, and in individuals with mutations in SDHB (1/1, 100%) and SDHD (2/5, 40%). | Succinic Acid | phosphatase and tensin homolog | Homo sapiens |
| 5 | CONCLUSION: Our data suggest that mutations in PTEN, SDHB, and SDHD reduce catalytic activity of succinate dehydrogenase, resulting in succinate accumulation, and identify a common biochemical alteration in these two patient populations (PTEN and SDHx mutation positive individuals). | Succinic Acid | phosphatase and tensin homolog | Homo sapiens |
| 6 | CONCLUSION: Our data suggest that mutations in PTEN, SDHB, and SDHD reduce catalytic activity of succinate dehydrogenase, resulting in succinate accumulation, and identify a common biochemical alteration in these two patient populations (PTEN and SDHx mutation positive individuals). | Succinic Acid | phosphatase and tensin homolog | Homo sapiens |