Disease Information for Timothy Calcium channel anomaly

Timothy syndrome: A childhood disorder characterized by severe cardiac arrhythmia, syndactyly (webbing) of the fingers and toes, congenital heart disease, intermittent hypoglycemia (low blood sugar), cognitive abnormalities and autism; The syndrome is due to spontaneous mutation in the gene for the CaV1-2 calcium channel, a pore-like protein that nestles in the cell membrane and controls the flow of calcium into and out of the cell;

---------- [medicineNet-com website 2005]-------------------Timothy syndrome (TS) is a rare genetic disorder characterized by a spectrum of problems that include an abnormally prolonged cardiac "repolarization" time (long QT interval); The prolonged repolarization time predisposes individuals to abnormal heart rhythms (arrhythmias), cardiac arrest and sudden death; Other problems included in the TS spectrum are webbing of fingers and/or toes (syndactyly); structural heart abnormalities present at birth (congenital); a weakened immune system; developmental delays and autism; Despite the complexity of health concerns, this syndrome arises from a single, spontaneous mutation in the Ca(v)1-2 Calcium Channel gene called CACNA1C; Multiple body systems are affected by this mutation due to impairment of a very fundamental cell ion channel, found in most tissues and organs, which controls the amount of calcium entering a cell; As a result of this mutation, the ion channel gating closure is affected and cells are overwhelmed by a continuous influx of calcium; The affected gene is active (expressed) in cardiac muscle cells as well as tissues of the gastrointestinal system, lungs, immune system, smooth muscle, testes, and brain, including regions of the brain that are associated with abnormalities observed in autism-----[NORD website 2005]---------

(Edit)