Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?

The document discusses the potential of studying monogenic disorders (diseases caused by a single gene mutation) to understand more common diseases. It highlights the example of Cantu Syndrome, a rare disorder caused by mutations in the cardiovascular KATP channel genes ABCC9 and KCNJ8. This syndrome is characterized by enlarged hearts, hypertrichosis (excessive hair growth), and specific facial features. The authors suggest that the hair growth-promoting effects of minoxidil, a common treatment for hair loss, can be attributed to its action on KATP. The document also discusses the potential of studying other monogenic disorders to understand common diseases, such as Pulmonary Arterial Hypertension (PAH), which has been associated with mutations in four ion channel genes. The authors conclude that while predicting the occurrence of common diseases based on genotype alone is unlikely, understanding the mechanisms of monogenic disorders can provide insights into common diseases and potentially improve treatments.