Related Experiment Video
Updated: Jul 30, 2026
07:01
An Orthotopic Mouse Model of Anaplastic Thyroid Carcinoma
Published on: April 17, 2013
21.1K
Can inactivation mutation in the thyroid stimulating hormone receptor gene and hyperthyroidism coexist?: A case
Yanfang Liu1, Jie Li1, Fei Gao1
1Department of Endocrinology, First Hospital of Shanxi Medical University, Taiyuan, China.
Medicine
|January 19, 2024
Summary
The G132R mutation in the thyroid stimulating hormone receptor (TSHR) gene is a loss-of-function mutation. This finding provides new insights into TSHR gene function and associated clinical phenotypes.
Area of Science:
- Endocrinology
- Molecular Genetics
Background:
- Investigated a patient with recurrent hypokalemia and a history of hyperthyroidism.
- Identified a heterozygous G132R mutation in the thyroid stimulating hormone receptor (TSHR) gene.
Observation:
- In vitro studies were performed using wild-type and mutant TSHR.
- Compared mRNA levels, protein expression, cell activity, and cAMP production.
Findings:
- Mutant TSHR (mutTSHR) showed no significant difference in mRNA levels compared to wild-type.
- Protein expression, cell activity, and cAMP content were significantly lower in mutTSHR, indicating a loss-of-function mutation.
Implications:
- The G132R mutation is a loss-of-function variant of the TSHR gene.
- This study expands the understanding of the G132R mutation's in vitro effects and clinical relevance in hyperthyroidism.
Related Concept Videos
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
01:12Loss of Tumor Suppressor Gene Functions
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...