You are tending to a 27-year-old male patient presenting with hypogonadism and cardiomyopathy. Additional testing has confirmed that the patient is suffering from juvenile hemochromatosis type 2A. This disorder results from a defect in the gene encoding the hemojuvelin protein. The expression of which of the following proteins would likely be unregulated in this patient?

Question

Quizplus · Accepted Answer

Juvenile hemochromatosis type 2A is caused by a defect in the hemojuvelin protein, which plays a role in regulating hepcidin expression. A defect in hemojuvelin leads to decreased hepcidin levels, resulting in unregulated iron absorption and overload. Therefore, hepcidin expression would likely be unregulated (decreased) in this patient.  Juvenile hemochromatosis (JH) type 2A is the result of defects in the gene encoding hemojuvelin (HJV). The function of hemojuvelin is to regulate the expression of the hepcidin gene. Unregulated expression of hepcidin allows for increased iron uptake resulting in the iron overload typical in hemochromatosis.

You Are Tending to a 27-Year-Old Male Patient Presenting with Hypogonadism