All eight patients had biallelic mutations in the DUOX2 gene. We find that loss of DUOX2 activity results in transient congenital hypothyroidism and that transient congenital hypothyroidism caused by DUOX2 mutations is inherited as an autosomal recessive trait.
Gilbert syndrome is a mild hereditary unconjugated hyperbilirubinemia caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1). The mutation, A(TA)7TAA, is thought to be the sole cause of the syndrome in Caucasians, but an enhancer polymorphism (T-3279G) that lowers transcriptional activity has recently been reported. We have tested the linkage of the two mutations in 11 Caucasians and 12 Japanese patients who were homozygous for A(TA)7TAA. All 23 patients were also homozygous for T-3279G, indicating that T-3279G and A(TA)7TAA were linked. The decrease in transcription caused by both mutations together may be essential to the syndrome.
The morphological characteristics and distribution of the somata of serotonin-containing neurons in the brainstem of rats and cats were studied by use of the peroxidase-anti peroxidase (PAP) immunohistochemical method employing highly specific antibodies to serotonin. Antibodies were raised in rabbits against an antigen prepared by coupling serotonin to bovine thyroglobulin and using formaldehyde as the coupling reagent. The distribution pattern of serotonin neurons observed in the present material is essentially in agreement with that described by other investigators who used the Falck-Hillarp method. In addition, this immunohistochemical technique revealed serotonin-containing perikarya in the following regions: 1) the periaqueductal gray, especially lateral to the nucleus raphe dorsalis, 2) the nucleus interpeduncularis, 3) the nucleus parabrachialis ventralis and dorsalis, 4) the field of the lemniscus lateralis, and 5) the reticular formation of the pons and medulla oblongata. The described immunohistochemical procedure makes it possible to study central serotonin neurons in detail without pharmacological pretreatment. The wide distribution of serotonin neurons demonstrated in this study should be considered when interpreting experiments dealing with the serotonin system.
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