Factor IX is one of the proteins that play a role in coagulation. Produced in the liver and activated by Factor XIa or Factor VIIa, depending on whether the coagulation cascade is following the contact activation pathway or the tissue factor pathway, it then catalyzes the next reaction in the cascade continuing down the path toward clot formation. Factor IX deficiency results in Hemophilia B, a clotting disorder that prevents the blood from clotting appropriately.
A series of sudden and unexplained deaths among seemingly healthy Amish children has been a mystery for years. New technology has allowed researchers to isolate the rare genetic mutation in the RYR2 gene that is to blame, offering answers and hope to the families impacted.
A genetic mutation in SERPINE1, the gene responsible for Plasminogen Activator Inhibitor-1 (PAI-1), seems to have ties back to leading a longer, healthier life. While complete PAI-1 deficiency can lead to a life-threatening clotting disorder, individuals who were heterozygous for this mutation seem to enjoy an extended lifespan on average.
New research validates the PAI-1 knockout mouse as a preclinical genetic model of human depression, while demonstrating that this knockout also serves as a model for antidepressant resistance. Not only that, but this new research shows PAI-1 is involved in depression separately from the tPA-BDNF axis. As a result, PAI-1 could be a novel target for developing new treatments for major depressive disorder.