3beta hydroxysteroid dehydrogenase deficiency 3b hsd

Stop codon suppression or translational readthrough occurs when in translation a stop codon is interpreted as a sense codon, that is, when a (standard) amino acid is 'encoded' by the stop codon. Mutated tRNAs can be the cause of readthrough, but also certain nucleotide motifs close to the stop codon. Translational readthrough is very common in viruses and bacteria, and has also been found as a gene regulatory principle in humans, yeasts, bacteria and drosophila. [17] [18] This kind of endogenous translational readthough constitutes a variation of the genetic code , because a stop codon codes for an amino acid. In the case of human malate dehydrogenase , the stop codon is read through with a frequency of about 4%. [19] Amino acids inserted at the stop codon depends of the identity of the stop codon itself: Gln, Tyr and Lys; have been found for UAA and UAG codon, while Cys, Trp, Arg for UGA codon have been identified by mass spectrometry. [20]

The fetal adrenal cortex lacks expression of the enzyme early on, thus mineralocorticoids (. aldosterone ) and glucocorticoids (. cortisol ) cannot be synthesized. This is significant because cortisol induces type II pneumocytes of the lungs to synthesize and secrete pulmonary surfactant ; without pulmonary surfactant to reduce the alveolar surface tension , premature neonates may die of neonatal respiratory distress syndrome . If delivery is unavoidable (. because of placental abruption , or pre-eclampsia / HELLP syndrome ), then glucocorticoids (. cortisol) can be administered.

International Adrenal Cortex Conference “Adrenal 2010” Wednesday, June 16, 2010 - Friday, June 18, 2010
Location: San Diego, California Description: This conference provided a forum for both new and established investigators to present their most recent work, highlighting new findings relevant to adrenal physiology, biochemistry and molecular biology, genetics, and medicine. It was anticipated that these discoveries would provide a framework for further understanding of the function of the adrenal gland and its contributions to health and disease.

3beta hydroxysteroid dehydrogenase deficiency 3b hsd

3beta hydroxysteroid dehydrogenase deficiency 3b hsd

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