Related Experiment Video
Updated: Aug 13, 2026
12:49
Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
Published on: September 4, 2011
[Pathologic manifestations of hormonal receptor mutations]
1Laboratoire d'Hormonologie et de Biologie Moléculaire, Unité 135 de l'INSERM: Hormones, Gènes et Reproduction, Hôpital de Bicêtre, Le Kremlin-Bicêtre. u135@kb.inserm.fr
Bulletin De L'Academie Nationale De Medecine
|September 16, 2000
Summary
Receptor gene mutations impact thyroid and reproductive health. Activating mutations cause overactivity (hyperthyroidism, premature puberty), while inactivating mutations lead to underactivity (hypothyroidism, hypogonadism).
Area of Science:
- Endocrinology
- Molecular Genetics
- Reproductive Biology
Context:
- Thyroid and gonadal pathologies are often linked to alterations in specific receptor genes.
- Thyroid-stimulating hormone (TSH) and luteinizing hormone (LH) receptors play critical roles in endocrine function.
Purpose:
- To elucidate the role of receptor gene mutations in thyroid and gonadal disorders.
- To differentiate the effects of activating versus inactivating mutations on receptor function and associated pathologies.
Summary:
- Activating mutations in TSH and LH receptors result in constitutive receptor activity, leading to hyperthyroidism and premature puberty, respectively. These mutations are typically dominant.
- Inactivating mutations in TSH, gonadotropin, and gonadotropin-releasing hormone (GnRH) receptors are recessive and cause hypothyroidism or hypogonadism.
- Specific types of hypogonadism are linked to receptor mutations: hypergonadotropic hypogonadism with gonadotropin receptor alterations and hypogonadotropic hypogonadism with GnRH receptor mutations.
Impact:
- Provides a framework for understanding the genetic basis of endocrine and reproductive diseases.
- Highlights the distinct clinical outcomes based on the type and location of receptor gene mutations.
- Informs potential diagnostic and therapeutic strategies for patients with thyroid and gonadal dysfunction.
Related Concept Videos
02:18Cancer
Cancers arise due to mutations in genes involved in the regulation of cell division, which leads to unrestricted cell proliferation. Modern science and medicine have made great strides in the understanding and treatment of cancer, including eradicating cancer in some patients. However, there is still no cure for cancer. This is largely due to the fact that cancer is a large group of many diseases.
02:38Mitogens and the Cell Cycle
Mitogens and their receptors play a crucial role in controlling the progression of the cell cycle. However, the loss of mitogenic control over cell division leads to tumor formation. Therefore, mitogens and mitogen receptors play an important role in cancer research. For instance, the epidermal growth factor (EGF) - a type of mitogen and its transmembrane receptor (EGFR), decides the fate of the cell's proliferation. When EGF binds to EGFR, a member of the ErbB family of tyrosine kinase...
02:07Tumor Progression
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
01:33Cancer-Critical Genes I: Proto-oncogenes
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
01:33Cancer-Critical Genes I: Proto-oncogenes
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
01:25Mutagenicity and Carcinogenicity
Mutagenicity and carcinogenicity refer to the ability of drugs to cause genetic defects and induce cancer, respectively. The International Agency for Research on Cancer (IARC) classifies agents into four groups based on their carcinogenic potential. Group 1 agents are known human carcinogens; group 2A agents are probably carcinogenic to humans; group 3 agents lack data to support their role in carcinogenesis; and group 4 includes agents for which data support that they are not likely to be...