Timothy syndrome mutations provide new insights into the
structure of L-calcium channel The human genome encodes 243
voltage-gated ion channels. Mutations in calcium channels can
cause severe inherited diseases such as migraine, night
blindness, autism spectrum disorders and Timothy syndrome, which
leads to severe cardiovascular disorders. Katrin Depil and Anna
Stary-Weinzinger together with colleagues from the Department of
Pharmacology and Toxicology, University of Vienna analyzed
changes in molecular organization of calcium channels caused by
Timothy syndrome mutations. Recently, they published their
current research results in the Journal of Biological Chemistry.
Ion channels are large membrane proteins that conduct potassium,
sodium or calcium ions. They regulate electrical signals in the
nervous system, control the release of neurotransmitters and are
responsible for the regulation of the heart rhythm and muscle
contractions. Voltage-gated calcium channels, like all other
voltage-gated ion channels open