scholarly journals Iodide Transport Defect: Functional Characterization of a Novel Mutation in the Na+/I− Symporter 5′-Untranslated Region in a Patient with Congenital Hypothyroidism

2011 ◽  
Vol 96 (7) ◽  
pp. E1100-E1107 ◽  
Author(s):  
Juan Pablo Nicola ◽  
Magalí Nazar ◽  
Caroline Serrano-Nascimento ◽  
Francemilson Goulart-Silva ◽  
Gabriela Sobrero ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Untranslated Region ◽  
Novel Mutation ◽  
Functional Characterization ◽  
Iodide Transport ◽  
Transport Defect

scholarly journals Thyroid Gene Mutations in Pregnant and Breastfeeding Women Diagnosed With Transient Congenital Hypothyroidism: Implications for the Offspring’s Health

2021 ◽  
Vol 12 ◽  
Author(s):  
Maria C. Opazo ◽  
Juan Carlos Rivera ◽  
Pablo A. Gonzalez ◽  
Susan M. Bueno ◽  
Alexis M. Kalergis ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Hormones ◽  
Congenital Hypothyroidism ◽  
Gene Mutations ◽  
Genetic Variations ◽  
Hormone Deficiency ◽  
Iodide Transport ◽  
Transport Defect ◽  
Pregnancy And Lactation ◽  
Transient Congenital Hypothyroidism

Fetus and infants require appropriate thyroid hormone levels and iodine during pregnancy and lactation. Nature endorses the mother to supply thyroid hormones to the fetus and iodine to the lactating infant. Genetic variations on thyroid proteins that cause dyshormonogenic congenital hypothyroidism could in pregnant and breastfeeding women impair the delivery of thyroid hormones and iodine to the offspring. The review discusses maternal genetic variations in thyroid proteins that, in the context of pregnancy and/or breastfeeding, could trigger thyroid hormone deficiency or iodide transport defect that will affect the proper development of the offspring.

scholarly journals Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees

2021 ◽  
Vol 12 ◽  
Author(s):  
Feng Jiang ◽  
Jing Yan ◽  
Rong Zhang ◽  
Xiaojing Ma ◽  
Yuqian Bao ◽  
...  
Keyword(s):  
Thermal Stability ◽  
Stability Analysis ◽  
Novel Mutation ◽  
Functional Characterization ◽  
Heterozygous Mutation ◽  
The Novel ◽  
Glucokinase Gene ◽  
Onset Diabetes ◽  
Whole Exome

BackgroundGlucokinase (GCK) plays a central role in glucose regulation. The heterozygous mutations of GCK can cause a monogenic form of diabetes, maturity-onset diabetes of the young (MODY) directly. In our study, we aimed to explore the mechanism of the novel mutation GCK p.Ala259Thr leading to glucokinase deficiency and hyperglycemia.MethodsThirty early-onset diabetes pedigrees were referred to whole exome sequencing for novel mutations identification. Purified wild-type and mutant GCK proteins were obtained from E.coli systems and then subjected to the kinetic and thermal stability analysis to test the effects on GCK activity.ResultsOne novel missense mutation GCK p.Ala259Thr was identified and co-segregated with diabetes in a Chinese MODY2 pedigree. The kinetic analysis showed that this mutation result in a decreased affinity and catalytic capability for glucose. The thermal stability analysis also indicated that the mutant protein presented dramatically decreased activity at the same temperature.ConclusionOur study firstly identified a novel MODY2 mutation p.Ala259Thr in Chinese diabetes pedigrees. The kinetic and thermal stability analysis confirmed that this mutation caused hyperglycemia through severely damaging the enzyme activities and protein stability.

scholarly journals The type 1 CD10/neutral endopeptidase 24.11 promoter: functional characterization of the 5′-untranslated region

2003 ◽  
Vol 123 (1) ◽  
pp. 177-183 ◽  
Author(s):  
Nobuo Sezaki ◽  
Fumihiko Ishimaru ◽  
Takayuki Tabayashi ◽  
Itaru Kataoka ◽  
Koichi Nakase ◽  
...  
Keyword(s):  
Untranslated Region ◽  
Functional Characterization ◽  
Neutral Endopeptidase ◽  
Endopeptidase 24.11

scholarly journals Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect

2010 ◽  
Vol 2010 ◽  
pp. 1-3 ◽  
Author(s):  
Wakako Jo ◽  
Katsura Ishizu ◽  
Kenji Fujieda ◽  
Toshihiro Tajima
Keyword(s):  
Thyroid Gland ◽  
Congenital Hypothyroidism ◽  
Sodium Iodide ◽  
Present Report ◽  
Sodium Iodide Symporter ◽  
Loss Of Function ◽  
Laboratory Findings ◽  
Iodide Transport ◽  
Transport Defect ◽  
Pax8 Gene

Loss-of-function mutations of the PAX8 gene are considered to mainly cause congenital hypothyroidism (CH) due to thyroid hypoplasia. However, some patients with PAX8 mutation have demonstrated a normal-sized thyroid gland. Here we report a CH patient caused by a PAX8 mutation, which manifested as iodide transport defect (ITD). Hypothyroidism was detected by neonatal screening and L-thyroxine replacement was started immediately. Although I scintigraphy at 5 years of age showed that the thyroid gland was in the normal position and of small size, his iodide trapping was low. The ratio of the saliva/plasma radioactive iodide was low. He did not have goiter; however laboratory findings suggested that he had partial ITD. Gene analyses showed that the sodium/iodide symporter (NIS) gene was normal; instead, a mutation in the PAX8 gene causing R31H substitution was identified. The present report demonstrates that individuals with defective PAX8 can have partial ITD, and thus genetic analysis is useful for differential diagnosis.

scholarly journals Erratum: Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation

2014 ◽  
Vol 59 (7) ◽  
pp. 417-417
Author(s):  
Masafumi Noguchi ◽  
Masanori Honsho ◽  
Yuichi Abe ◽  
Ryusuke Toyama ◽  
Hajime Niwa ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Functional Characterization ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Mild Reduction

scholarly journals Biochemical and Functional Characterization of a Novel Mutation in the NADPH Cytochrome P450 Oxidoreductase

2019 ◽  
Vol 33 (S1) ◽  
Author(s):  
Amit V Pandey ◽  
Sara Benito‐Sanz ◽  
Shaheena Parween ◽  
Juan‐Pedro López‐Siguero ◽  
Núria Camats ◽  
...  
Keyword(s):  
Cytochrome P450 ◽  
Novel Mutation ◽  
Functional Characterization ◽  
P450 Oxidoreductase ◽  
Nadph Cytochrome ◽  
Cytochrome P450 Oxidoreductase

Functional Characterization of a Novel Mutation in KCNA1 in Episodic Ataxia Type 1 Associated with Epilepsy

1999 ◽  
Vol 868 (1 MOLECULAR AND) ◽  
pp. 442-446 ◽  
Author(s):  
ALEXANDER SPAUSCHUS ◽  
LOUISE EUNSON ◽  
MICHAEL G. HANNA ◽  
DIMITRI M. KULLMANN
Keyword(s):  
Novel Mutation ◽  
Functional Characterization ◽  
Episodic Ataxia ◽  
Episodic Ataxia Type
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