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Timothy syndrome is a rare genetic disorder characterized by a spectrum of problems that include an abnormally prolonged
cardiac "repolarization" time (long QT interval). This refers to the process of returning heart cells to a resting state in
preparation for the next heartbeat. 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. Timothy
syndrome was identified in 2004 by researchers at Children’s Hospital Boston, Howard Hughes Medical Institute, University
of Utah and University of Pavia, Pavia, Italy.
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.
Credit to - www.rarediseases.org
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