INT56985
From wiki-pain
|
|
|
|
|
Sentences Mentioned In
Key: | Protein | Mutation | Event | Anatomy | Negation | Speculation | Pain term | Disease term |
Pyrin expression alters PSTPIP1 distribution | |||||||||||||||
| |||||||||||||||
|
In contrast, when pyrin is transfected into cultured cells, it is uniformly distributed throughout the cytoplasm without a filamentous pattern (Figure 1E). | |||||||||||||||
| |||||||||||||||
|
In transfected cells, which endogenously express neither pyrin nor PSTPIP1, transfected PSTPIP1 assembles into delicate filaments (Figure 1C). | |||||||||||||||
| |||||||||||||||
|
Genetic analysis of the MEFV-gene as well as a therapeutic trial with colchicine, may help to detect FMF. | |||||||||||||||
| |||||||||||||||
|
In contrast, individuals with one or more missense mutations at the MEFV locus produce a pyrin protein with altered or absent function. | |||||||||||||||
| |||||||||||||||
|
As shown in Figure 2, MCP-1, IP-10 and eotaxin plasma levels were elevated, on average, for all FMS patients vs. unrelated controls, except those with the rare alleles for the MEFV gene, who were empirically intermediate, but cannot be statistically distinguished from either controls or other FMS patients. | |||||||||||||||
| |||||||||||||||
|
Pyrin, product of the MEFV locus, interacts with the proapoptotic protein, Siva. | |||||||||||||||
| |||||||||||||||
|
Pyrin, the product of the MEFV locus, is a cytosolic protein whose function is unknown. | |||||||||||||||
| |||||||||||||||
|
The incomplete penetrance and the varying expression of FMF suggest the presence of other, possibly genetic, factors that could influence the expression of illness [4, 19]. | |||||||||||||||
| |||||||||||||||
|
When ASC specks form in cells transfected with ASC and pyrin, both proteins are always co-localized in the specks (Figure 9AD). | |||||||||||||||
| |||||||||||||||
|
Indeed, in earlier studies, we demonstrated that, in HeLa cells (which do not express PSTPIP1) co-transfection of pyrin and ASC promotes ASC speck formation [32]. | |||||||||||||||
| |||||||||||||||
|
Note also that PSTPIP1 filaments, in the absence of pyrin decoration, are finer and more delicate in nature (compare Figure 4G to Figure 4J) | |||||||||||||||
| |||||||||||||||
|
A second difference between our findings and those of earlier studies is that we find that pyrin is not sequestered away from ASC by its interaction by PSTPIP1, and does not require PSTPIP1 to interact with ASC. | |||||||||||||||
| |||||||||||||||
|
The distribution of pyrin in transfected cells that do not express PSTPIP1 is diffusely cytoplasmic (Figure 1E), but pyrin exhibits a course filamentous distribution in human monocytes that express PSTPIP1 (Figure 1D). | |||||||||||||||
| |||||||||||||||
|
Modeling PSTPIP1 structure: prediction of separate membrane-interacting and pyrin-interacting surfaces | |||||||||||||||
| |||||||||||||||
|
In the presence of pyrin, DiIC16 staining was not perturbed (Figure 7DF). | |||||||||||||||
| |||||||||||||||
|
We show that Siva and pyrin are indeed co-expressed in human neutrophils, monocytes, and synovial cells. | |||||||||||||||
| |||||||||||||||
|
In contrast, individuals with one or more missense mutations at the MEFV locus produce a pyrin protein with altered or absent function. | |||||||||||||||
| |||||||||||||||
|
Unsurprisingly, pyrin is found in large quantities in neutrophils and released in response to inflammatory stimuli. | |||||||||||||||
| |||||||||||||||
|
These results support our diagnosis of FMS in this cohort, rather than variant FMF. | |||||||||||||||
| |||||||||||||||
|
General Comments
This test has worked.