Sequence of a Variant Thyroxine-Binding Globulin(TBG) in a Family with Partial TBG Deficiency in Japanese(TBG-PDJ).

Miura, Yoshitaka; Mori, Yuichi; Yamamori, Ikuo; Tani, Yoshiyuki; Murata, Yoshiharu; Yoshimoto, Masaaki; Kinoshita, Eiichi; Matsumoto, Tadashi; Oiso, Yutaka; Seo, Hisao

doi:10.1507/endocrj.40.127

Cited by 7 publications

(2 citation statements)

References 13 publications

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“…We determined the proportion of normal and mutant mitochondrial DNA by last‐cycle hot PCR analysis. DNA was extracted from the peripheral mononuclear cells using standard methods [3]. DNA (1 µg) was subjected to PCR amplification (1 min at 94°C, 1 min at 55°C, 0.75 min at 72°C: 25 cycles), using a primer pair: 3116–3134 and 3353–3333 (numbers are according to Anderson et al .…”

Section: Methodsmentioning

confidence: 99%

Age of onset possibly associated with the degree of heteroplasmy in two male siblings with diabetes mellitus having an A to G transition at 3243 of mitochondrial DNA

et al. 2002

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We describe two male siblings with diabetes mellitus caused by mitochondrial 3243 mutation. The level of heteroplasmy in peripheral blood leucocytes was determined by a last-cycle hot PCR method. The younger brother, who had 39% heteroplasmy, developed diabetes at age of 25, and demonstrated a lean body habitus and blunted insulin secretion. The elder brother, who had 22% heteroplasmy, was diagnosed at the age of 42. The younger brother showed a higher increment of serum lactate after exercise. In these siblings the level of heteroplasmy in their peripheral blood leucocytes appeared to be associated with age of onset of diabetes.

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Section: Methodsmentioning

confidence: 99%

Age of onset possibly associated with the degree of heteroplasmy in two male siblings with diabetes mellitus having an A to G transition at 3243 of mitochondrial DNA

et al. 2002

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“…Murata et al [63] and Takeda et al [50]: (7) Mori et al [28] and Janssen et al [ 10]: (8) Mori et al [28]: (9) Takamatsu and Refctoff [64] and Janssen et al [65]: (10) Takamatsu et ai. [58] and Bertenshaw et al [66]: (11) Yamamori et al [53] and Miura et al [67]; (12) Shirotani et al [68] and Miura et al [69]. [Reproduced from 70. chapt 36], Fig.…”

Section: Tbg Excess (Tbg-e)mentioning

confidence: 99%

Thyroxine-Binding Globulin: Organization of the Gene and Variants

et al. 1996

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Thyroxine-binding globulin (TBG), the principal thyroid hormone transport protein in human serum, is synthesized by the liver and secreted into the bloodstream as a 54-kD acidic glycoprotein made up of a single polypeptide chain of 395 amino acids and four heterosaccharide units. The carbohydrate chains are important for the correct posttranslational folding, secretion and degradation of the molecule but are not required for hormone binding. TBG, encoded by a single gene copy located on Xq22, consists of five exons spanning 5.5 kbp. An upstream sequence of 218 nucleotides containing a hepatocyte nuclear factor 1 binding motif imparts to the gene a strong liver-specific transcriptional activity. Inherited TBG defects produce three phenotypes based on the level of TBG in serum of affected hemizygotes: complete TBG deficiency (TBG-CD), partial TBG deficiency (TBG-PD) and TBG excess (TBG-E). The molecular basis of the TBG defect has been identified in 12 of 16 known TBG variants. TBG-CD is caused by either premature termination of translation or an amino acid substitution resulting in failure of secretion. Point mutations resulting in single amino acid substitutions are responsible for the alteration of the properties and/or concentration of TBG-PD variants. Gene duplication and triplication has been recently identified in subjects with TBG-E.

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An Outline of Inherited Disorders of the Thyroid Hormone Generating System

Knobel

Medeiros‐Neto

2003

Thyroid

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To date, various genetic defects impairing the biosynthesis of thyroid hormone have been identified. These congenital heterogeneous disorders result from mutations of genes involved in many steps of thyroid hormone synthesis, storage, secretion, delivery, or utilization. In contrast to thyroid dyshormonogenesis, the elucidation of the underlying etiology of most cases of thyroid dysgenesis is much less understood. It is suggested that genetic factors might play a role in some cases of thyroid dysgenesis and the best candidate genes involved are those encoding transcription factors known to play a role in the embryonic development of the thyroid gland. Moreover, discordance for thyroid dysgenesis is the rule for monozygotic twins as recently reported and this may result from epigenetic phenomena, early somatic mutations, or postzygotic events. In the final part of this review the molecular defects involved in proteins that transport thyroid hormone in the circulation are described: thyroxine-binding globulin (TBG), transtiretin and albumin, that may be associated with altered thyroid function tests and other pathologic conditions such as amyloidotic polyneuropathy.

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Sequence of a Variant Thyroxine-Binding Globulin(TBG) in a Family with Partial TBG Deficiency in Japanese(TBG-PDJ).

Cited by 7 publications

References 13 publications

Age of onset possibly associated with the degree of heteroplasmy in two male siblings with diabetes mellitus having an A to G transition at 3243 of mitochondrial DNA

Age of onset possibly associated with the degree of heteroplasmy in two male siblings with diabetes mellitus having an A to G transition at 3243 of mitochondrial DNA

Thyroxine-Binding Globulin: Organization of the Gene and Variants

An Outline of Inherited Disorders of the Thyroid Hormone Generating System

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