Rarely, NMO may occur in the context of other autoimmune diseases (e.g. connective tissue disorders, paraneoplastic syndromes) or infectious diseases. (wikipedia.org)
The candidate genes exhibit expression patterns in lung and heart similar to that of known PAH risk genes, and most variants occur in conserved protein domains. (biomedcentral.com)
Cases5
In more than 80% of cases, NMO is caused by immunoglobulin G autoantibodies to aquaporin 4 (anti-AQP4), the most abundant water channel protein in the central nervous system. (wikipedia.org)
In more than 80% of cases, IgG autoantibodies against aquaporin-4 (anti-AQP4+) are the cause, and in 10-40% of the remaining cases, IgG antibodies against MOG are the cause. (wikipedia.org)
Mutations in bone morphogenetic protein receptor 2 ( BMPR2 ) are the cause of most heritable cases but the vast majority of other cases are genetically undefined. (biomedcentral.com)
We identified protein-coding variants and performed rare variant association analyses in unrelated participants of European ancestry, including 1647 IPAH cases and 18,819 controls. (biomedcentral.com)
For example, bone morphogenetic protein receptor type 2 ( BMPR2 ) mutations are observed in 60-80% of familial (FPAH) cases, but data from population registries indicate that penetrance of the disease phenotype ranges from 14 to 42% [ 6 ]. (biomedcentral.com)
AQP45
In more than 80% of cases, NMO is caused by immunoglobulin G autoantibodies to aquaporin 4 (anti-AQP4), the most abundant water channel protein in the central nervous system. (wikipedia.org)
Lesions may also affect the diencephalon, mostly in Aquaporin-4-Immunoglobulin-G (AQP4-IgG) NMOSD. (wikipedia.org)
citation needed] NMOSD is usually caused by autoantibodies targeting aquaporin 4 (AQP4), a channel protein in the cell membrane that allows water to pass through the membrane. (wikipedia.org)
Thus, NMOSD involving AQP4-IgG can be considered an astrocytopathy or autoimmune astrocytic channelopathy, since the astrocytes are semi-selectively destroyed. (wikipedia.org)
It's possible, they write, that there is a functional interaction between KIR4.1 and the water channel aquaporin-4 (AQP4), and that this interaction regulates water homeostasis. (medscape.com)
Astrocytic1
Here we show that NMO-IgG binds selectively to the aquaporin-4 water channel, a component of the dystroglycan protein complex located in astrocytic foot processes at the blood-brain barrier. (nih.gov)
Astrocytes1
The experiments showed that serum anti-KIR4.1 antibodies from patients with MS can deplete KIR4.1 on glial cells and alter expression of glial fibrillary acidic protein (GFAP) in astrocytes. (medscape.com)