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Abstract
Inwardly rectifying potassium (Kir) channels are essential for numerous physiological processes, including neuronal and cardiac excitability. Recently, the very rare disease Keppen-Lubinsky syndrome (KPLBS), caused by de novo heterozygous mutations in the Kir3.2 channel has been described. KPLBS leads to severe developmental and intellectual problems, microcephaly, tightly adherent skin and severe generalized lipodystrophy. Recent breakthroughs in x-ray crystallography and cryo-electron microscopy provide insights into the structure of inward rectifier channels, and enable detailed characterization of the structural effects of disease-causing mutations. Multi-µs time scale molecular dynamics simulations on the WT Kir3.2 and disease mutant channel provide insights into the structural changes, caused by the point mutation, and the molecular mechanisms, leading to loss of K+ selectivity.
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