Although toxic in large amounts, selenium is essential as it is incorporated as the amino acid selenocysteine into some proteins (known as selenoproteins). Using resources provided by the BRC, affected individuals were found to have a variant of the gene SECISBP2 which means they are unable to produce most of the 25 known human selenoproteins. As a consequence, patients have abnormal thyroid function, and develop disorders such as muscular dystrophy (muscle weakness) and male infertility.
This discovery is reported in the Journal of Clinical Investigation
Section:
DOME
