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:C0153470 (
Spleen
)
4,015
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Spinal muscular atrophy
(
SMA
), traditionally described as a predominantly childhood form of motor neurone disease, is the leading genetic cause of infant mortality. Although motor neurones are undoubtedly the primary affected cell type, the severe infantile form of
SMA
(Type I
SMA
) is now widely recognised to represent a multisystem disorder where a variety of organs and systems in the body are also affected. Here, we report that the spleen is disproportionately small in the 'Taiwanese' murine model of severe
SMA
(Smn
-/-
;SMN2
tg/0
), correlated to low levels of cell proliferation and increased cell death.
Spleen
lacks its distinctive red appearance and presents with a degenerated capsule and a disorganised fibrotic architecture. Histologically distinct white pulp failed to form and this was reflected in an almost complete absence of B lymphocytes necessary for normal immune function. In addition, megakaryoctyes persisted in the red pulp. However, the vascular density remained unchanged in
SMA
spleen. Assessment of the spleen in
SMA
patients with the infantile form of the disease indicated a range of pathologies. We conclude that development of the spleen fails to occur normally in
SMA
mouse models and human patients. Thus, further analysis of immune function is likely to be required to fully understand the full extent of systemic disease pathology in
SMA
.
...
PMID:Survival of motor neurone protein is required for normal postnatal development of the spleen. 2772 34
