Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0038002 (
splenomegaly
)
9,873
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Niemann-Pick disease, type C1 (Npc1), is an atypical lysosomal storage disorder caused by autosomal recessive inheritance of mutations in Npc1 gene. In the Npc1 mutant mice (Npc1
-/-
), the initial manifestation is
enlarged spleen
, concomitant with free cholesterol accumulation. Telocytes (TCs), a novel type of interstitial cell, exist in a variety of tissues including spleen, presumably thought to be involved in many biological processes such as nursing stem cells and recruiting inflammatory cells. In this study, we found that the spleen is significantly enlarged in Npc1
-/-
mice, and the results from transmission electron microscopy examination and immunostaining using three different TCs markers, c-Kit, CD34 and
Vimentin
revealed significantly increased splenic TCs in Npc1
-/-
mice. Furthermore, hematopoietic stem cells and macrophages were also elevated in Npc1
-/-
spleen. Taken together, our data indicate that splenic TCs might alleviate the progress of splenic malfunction via recruiting hematopoietic stem cells and macrophages.
...
PMID:Telocytes: a potential defender in the spleen of Npc1 mutant mice. 2786 Feb 45
