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Article

Prevalent polymorphism in thyroid hormone-activating enzyme leaves a genetic fingerprint that underlies associated clinical syndromes.

The Journal of clinical endocrinology and metabolism - 1 Mar 2015

McAninch Elizabeth A, Jo Sungro, Preite Nailliw Z, Farkas Erzsébet, Mohácsik Petra, Fekete Csaba, Egri Péter, Gereben Balázs, Li Yan, Deng Youping, Patti Mary-Elizabeth, Zevenbergen Chantal, Peeters Robin P, Mash Deborah C, Bianco Antonio C

Abstract excerpt

CONTEXT: A common polymorphism in the gene encoding the activating deiodinase (Thr92Ala-D2) is known to be associated with quality of life in millions of patients with hypothyroidism and with several organ-specific conditions. This polymorphism results in a single amino acid change within the D2 molecule where its susceptibility to ubiquitination and proteasomal degradation is regulated. OBJECTIVE: To define the...

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Identifiers

PMID: 25569702
DOI: 10.1210/jc.2014-4092
PMCID: PMC4333048

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