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An Endoplasmic Reticulum Storage Disease Causing Congenital Goiter with Hypothyroidism by P S Kim; O Y Kwon; P Arvan is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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In humans, deficient thyroglobulin (Tg, the thyroid prohormone) is an important cause of congenital hypothyroid goiter; further, homozygous mice expressing two cog/cog alleles (linked to the Tg locus) exhibit the same phenotype. Tg mutations might affect multiple different steps in thyroid hormone synthesis; however, the microscopic and biochemical phenotype tends to involve enlargement of the thyroid ER and accumulation of protein bands of M(r) < 100. To explore further the cell biology of this autosomal recessive illness, we have examined the folding and intracellular transport of newly synthesized Tg in cog/cog thyroid tissue. We find that mutant mice synthesize a full-length Tg, which appears to undergo normal N-linked glycosylation and glucose trimming. Nevertheless, in the mutant, Tg is deficient in the folding that leads to homodimerization, and there is a deficiency in the quantity of intracellular Tg transported to the distal portion of the secretory pathway. Indeed, we find that the underlying disorder in cog/cog mice is a thyroid ER storage disease, in which a temperature- sensitive Tg folding defect, in conjunction with normal ER quality control mechanisms, leads to def

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Author

P S Kim; O Y Kwon; P Arvan

Publisher

The Rockefeller University Press

Published

1996

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)