Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

ATP-sensitive-K(+) (KATP) channels couple metabolism to the electrical activity of the cells. This channel is associated with glycolytic enzymes to form complexes regulating the channel activity in various tissues. The pyruvate-kinase (PK) enzyme is an antigen in the Paediatric Autoimmune Neuropsychiatric Disorders Associated Streptococcal infection known as PANDAS which is characterized by an abnormal production of auto-antibodies against PK. Here, the effects of the anti-pyruvate kinase antibody (anti-PK-ab) on the muscle and neuronal KATP channels were investigated in native rat skeletal muscle fibres and human neuroblastoma cell-line (SH-SY5Y), respectively. Furthermore, the interaction of PK with the inwardly rectifier potassium channel (Kir6.1/Kir6.2) subunits of the KATP channels was investigated by co-immunoprecipitation experiments in mouse brain using the anti-PK-ab. Patch-clamp experiments showed that the short-term incubation (1h) of the fibres with the anti-PK-ab at the dilutions of 1:500 and 1:300 enhanced the KATP current of 19.6% and 33.5%, respectively. As opposite, the long-term incubation (24h) of the fibres with the anti-PK-ab at the dilutions of 1:500 and 1:300 reduced the KATP current of 16% and 24%, respectively, reducing the diameter with atrophy. The direct application of the anti-PK-ab to the excised patches in the absence of intracellular ATP caused channel block, while in the presence of nucleotide channel opened. In neuronal cell line, in the short-term the anti-PK-ab potentiated KATP currents without affecting survival, while in the long-term the anti-PK-ab reduced KATP currents inducing neuronal death. Opening/blocking actions of the anti-PK antibodies on the KATP channels were observed, the blocking action causes fibre atrophy and neuronal death. We demonstrated that PK and Kir subunits are physically/functionally coupled in neurons. The KATP/PK complex can be proposed a novel target in the autoimmune diseases associated with anti-PK production as in PANDAS.
 ...
PMID:Opening/blocking actions of pyruvate kinase antibodies on neuronal and muscular KATP channels. 2296 32

Opsoclonus Myoclonus (OMS) is a rare neurological disorder which appears to be the result of an autoimmune dysfunction. It is an extremely rare condition, affecting as few as 1 in 10,000,000 people every year. It affects 2 to 3% of children. Opsoclonus Myoclonus, which manifests itself as post infectious encephalopathy, occasionally along with HIV infection, post Streptococcal infection, West Nile virus encephalitis and Rickettsial infection, most often presents as a paraneoplastic syndrome, which is especially caused by occult neuroblastoma which is commonly seen in childhood and occurs in adults in relation to breast cancer and small cell lung cancer. In this study, two adult post infectious cases which had rare manifestations, have been presented. The cases were managed by using corticosteroids.
...
PMID:Dancing eyes dancing feet syndrome-a report of two cases. 2499 4