Fanconi anemia is rare genetic disorder that can be caused by changes in the sequence of one of at least 22 different genes. The disease can lead to a variety of symptoms including bone marrow failure, skeletal abnormalities, and increases the risk of cancer in patients. Scientists have long thought that the disease is due to problems with DNA that cause cell death, and disruptions in blood stem cells (also known as hematopoietic stem cells (HSCs), which are crucial for constantly replenishing the body’s supply of blood cells.
When protein-coding genes are expressed, the proteins they encode for start out as strings of amino acids, which have to be properly folded into a three-dimensional shape, or else serious problems can arise. Scientists have now determined that a buildup of miscoded proteins is actually a root cause of Fanconi anemia, and that a bile acid may be useful as a new treatment for the disorder. The research has been reported in Nature Communications.
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