KCNJ11 gene

Published Categorized as Genetics
KCNJ11 gene

The KCNJ11 gene is responsible for encoding a variant of the inward rectifier potassium channel, Kir6.2. This gene is closely related to other genes listed in databases such as OMIM and PubMed. The KCNJ11 gene plays a crucial role in heart and pancreatic beta-cell function, producing channels that control the inward movement of potassium ions in normal conditions.

Defects or changes in the KCNJ11 gene can lead to various disorders and diseases, such as permanent neonatal diabetes mellitus and transient neonatal diabetes mellitus. Testing for these disorders can be done through genetic testing and other diagnostic tests. The KCNJ11 gene is also related to maturity-onset diabetes of the young and gestational diabetes.

Research and scientific studies have shown the importance of the KCNJ11 gene in health and disease. It has been identified as a member of the ATP-sensitive inward rectifier potassium channel family, which is crucial for maintaining blood glucose levels and regulating insulin secretion. Hyperinsulinism is another condition associated with defects in the KCNJ11 gene, leading to hypoglycemia.

References to the KCNJ11 gene can be found in various scientific articles, and it is an essential resource for understanding genetic information related to these disorders. The KCNJ11 gene is also known as SUR1, and it has been listed in the genetics and disease catalog OMIM under the names Kir6.2 and Kir62.

Health Conditions Related to Genetic Changes

Genetic changes in the KCNJ11 gene have been found to be associated with various health conditions and disorders. These scientific discoveries have provided valuable insights into the underlying mechanisms and potential treatments for these conditions.

One of the most well-known conditions related to genetic changes in the KCNJ11 gene is neonatal diabetes mellitus. This condition is characterized by high blood sugar levels in infants and young children. It is caused by permanent changes in the KCNJ11 gene, which lead to dysfunction of the inward rectifier potassium channels in beta-cell cells of the pancreas. Mutations in this gene disrupt the normal regulation of insulin secretion, resulting in the development of diabetes at an early age.

Another health condition associated with the KCNJ11 gene is congenital hyperinsulinism. This rare disorder is caused by changes in the KCNJ11 gene that affect the function of the SUR1 subunit of the ATP-sensitive potassium (KATP) channels. These channels play a vital role in regulating insulin release by pancreatic beta cells. Genetic changes in the KCNJ11 gene can lead to abnormal KATP channel function, resulting in excessive insulin secretion and low blood sugar levels (hypoglycemia).

Gestational diabetes mellitus (GDM) is also related to genetic changes in the KCNJ11 gene. GDM is a temporary form of diabetes that occurs during pregnancy. It is thought that genetic variants in the KCNJ11 gene may contribute to an increased risk of developing GDM, although the exact mechanisms are not yet fully understood.

Further research is required to fully understand the relationship between genetic changes in the KCNJ11 gene and these health conditions. Scientists continue to conduct studies and investigate the specific genetic mutations and variants that may lead to the development of these disorders.

For additional information on health conditions related to genetic changes in KCNJ11 and other genes, references to scientific articles, databases, and resources can be found in the online catalog OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive information on genetic disorders and associated genes, including KCNJ11. PubMed, a widely used scientific publication database, is another valuable resource for finding scientific articles on the topic.

In conclusion, genetic changes in the KCNJ11 gene have been linked to a range of health conditions and disorders, including neonatal diabetes mellitus, congenital hyperinsulinism, and gestational diabetes mellitus. Understanding the function of this gene and the impact of genetic changes can provide important insights into the development of treatments and interventions for these conditions.

Congenital hyperinsulinism

Congenital hyperinsulinism is a genetic disorder characterized by excessive production of insulin by beta cells in the pancreas, leading to persistent hypoglycemia in neonates and young children. It is also known as persistent hyperinsulinemic hypoglycemia of infancy (PHHI) or, historically, as nesidioblastosis.

The condition is caused by mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium (KATP) channels found in beta-cells. These channels play a crucial role in regulating insulin secretion in response to changes in blood glucose levels.

There are two main forms of congenital hyperinsulinism: transient and permanent. Transient hyperinsulinism is usually seen in newborns and infants and typically resolves by the age of 18 months. Permanent hyperinsulinism, on the other hand, persists throughout life and may require ongoing medical management.

Diagnosis of congenital hyperinsulinism involves blood tests to measure insulin and glucose levels, as well as genetic testing to identify mutations in the KCNJ11 gene. Additional testing may include imaging studies and functional tests to assess the function of beta cells.

Treatment options for congenital hyperinsulinism include medications to control blood sugar levels, dietary modifications to maintain stable glucose levels, and in some cases, surgical removal of abnormal pancreatic tissue. Early diagnosis and prompt treatment are crucial for preventing long-term complications and ensuring optimal health outcomes.

According to the Online Mendelian Inheritance in Man (OMIM) database, there are several other related conditions associated with mutations in the KCNJ11 gene, including neonatal diabetes mellitus and permanent neonatal diabetes mellitus.

For additional resources and information on congenital hyperinsulinism, the Genetic and Rare Diseases Information Center (GARD) and the Congenital Hyperinsulinism International Registry (CHIR) are valuable sources.

References:

Permanent neonatal diabetes mellitus

Permanent neonatal diabetes mellitus is a rare genetic disorder that affects infants and young children. It is caused by mutations in the KCNJ11 gene, which codes for the Kir6.2 subunit of the ATP-sensitive potassium (KATP) channels. These channels regulate the flow of potassium ions in beta cells of the pancreas, leading to the production and release of insulin.

Individuals with mutations in the KCNJ11 gene have a defect in the Kir6.2 subunit, which results in impaired inward rectifier potassium channels. As a result, the beta cells are unable to respond adequately to changes in blood glucose levels, leading to the inability to produce and release insulin. This genetic defect is responsible for the permanent nature of the diabetes mellitus in affected individuals.

There are other genetic disorders and conditions that can cause neonatal diabetes or hyperinsulinism, but the KCNJ11 gene is among the most common genes involved in these conditions. Testing for mutations in the KCNJ11 gene can be performed to confirm a diagnosis of permanent neonatal diabetes mellitus.

Resources for more information on permanent neonatal diabetes mellitus and related disorders can be found in scientific databases and medical literature. PubMed, OMIM, and the KCNJ11 GeneReviews are some of the databases and catalogs that provide citation information, articles, and additional references for further reading.

In conclusion, permanent neonatal diabetes mellitus is a genetic disorder caused by mutations in the KCNJ11 gene. These mutations result in a defect in the Kir6.2 subunit of the KATP channels, leading to impaired insulin production and release in beta cells of the pancreas. Testing for mutations in the KCNJ11 gene can help confirm a diagnosis of permanent neonatal diabetes mellitus.

Gestational diabetes

Gestational diabetes is a type of diabetes that occurs during pregnancy. It is characterized by high blood sugar levels that develop or are first recognized during pregnancy and usually resolve after giving birth.

See also  Costello syndrome

Research has shown that the KCNJ11 gene, which codes for the Kir6.2 subunit of the ATP-sensitive inward rectifier potassium (KATP) channels, is related to the development of gestational diabetes. The KCNJ11 gene is also associated with other forms of diabetes, such as permanent neonatal diabetes and maturity-onset diabetes of the young (MODY).

Studies have listed a variant in the KCNJ11 gene as a risk factor for gestational diabetes. This variant affects the function of the KATP channels in insulin-secreting beta cells. Changes in the function of these channels can lead to abnormal insulin secretion and glucose metabolism, resulting in high blood sugar levels.

Genetic testing for mutations in the KCNJ11 gene can be used to identify individuals who are at risk for developing gestational diabetes. This information can be useful in implementing preventive measures and providing appropriate medical care during pregnancy.

Further research is needed to fully understand the role of the KCNJ11 gene in gestational diabetes and its potential implications for diagnosis and treatment. However, the scientific community recognizes the importance of genetic factors in the development of this condition.

References:

  1. Hattersley, A. T. (2006). Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity. Diabetic medicine, 23(7), 595-609. PubMed
  2. OMIM.
    Conditions: Genes:
    Permanent neonatal diabetes mellitus KCNJ11, ABCC8
    Transient neonatal diabetes mellitus KCNJ11, ABCC8, INS, KCNJ11-ABCC8 fusion gene
    Maturity-onset diabetes of the young (MODY) HNF1A, GCK, HNF4A, PDX1, HNF1B, NEUROD1, CEL, INS, BLK, KLF11
    Congenital hyperinsulinism ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, UCP2, HNF1A

    Source: OMIM

  3. The KCNJ11 gene. NCBI Gene

Maturity-onset diabetes of the young

Maturity-onset diabetes of the young (MODY) is a group of disorders characterized by permanent and transient diabetes mellitus starting in the young adult or adolescent age group.

MODY is caused by mutations in various genes, including the KCNJ11 gene. KCNJ11 is a member of the inward rectifier potassium channel family and is expressed in beta-cells of the pancreas. Mutations in the KCNJ11 gene lead to changes in the function of the ATP-sensitive potassium channels, resulting in hyperinsulinism in neonatal cases and diabetes in young adults.

The registry of transient neonatal hyperinsulinism listed KCNJ11 as one of the genes leading to this condition. The KCNJ11 gene is also related to other diseases, such as congenital hyperinsulinism, gestational diabetes, and Kir6.2-related diabetes mellitus.

For additional information on these disorders and the KCNJ11 gene, there are scientific articles and databases available. Some of the resources include PubMed, which provides a catalog of articles related to KCNJ11 and other genes involved in diabetes. The Hattersley MODY Registry also offers information and resources on MODY and related conditions.

References:

  1. “Maturity-onset diabetes of the young.” PubMed.
  2. “Transient neonatal hyperinsulinism.” Registry of Transient Neonatal Hyperinsulinism.
  3. “Congenital hyperinsulinism.” PubMed.
  4. “Gestational diabetes.” PubMed.
  5. “Kir6.2-related diabetes mellitus.” PubMed.
  6. “The Hattersley MODY Registry.” Hattersley MODY Registry.

Other disorders

In addition to diabetes, mutations in the KCNJ11 gene can cause other conditions. These include:

  • Transient neonatal diabetes mellitus
  • Maturity-onset diabetes of the young (MODY)
  • Neonatal hyperinsulinism
  • Gestational diabetes

These disorders are related to the malfunctioning of the Kir6.2 and SUR1 proteins encoded by the KCNJ11 gene. The inward rectifier potassium channels formed by these proteins play a crucial role in regulating the function of beta-cell insulin-producing cells in the pancreas.

Testing for mutations in the KCNJ11 gene can provide important information for the diagnosis and management of these disorders. Blood tests can detect changes in the gene and help identify individuals at risk for developing diabetes or other related conditions.

References to scientific articles and resources related to the KCNJ11 gene and its associated disorders can be found in the PubMed database. The registry of genetic disorders and other health resources also list information on these conditions and the genes involved.

Other Names for This Gene

  • KCNJ11 gene
  • Kir6.2
  • HHF1
  • IDDM13
  • PHHI
  • PNDM3
  • TNDM
  • bCHM
  • IKATP
  • HI

The KCNJ11 gene has a number of alternative names. These names are used in scientific resources such as OMIM, PubMed, and the Catalog of Human Genes and Genetic Disorders. The gene, also known as Kir6.2, is a member of the inward rectifier potassium (Kir) channels produced by SUR1. It is a key player in the function of beta-cell ATP-sensitive potassium channels, which are important for the regulation of insulin secretion in response to changes in blood glucose levels.

Additionally, the KCNJ11 gene is associated with various disorders, including permanent neonatal diabetes mellitus, transient neonatal diabetes mellitus, and maturity-onset diabetes of the young (MODY). It is also linked to congenital hyperinsulinism, a condition characterized by hypoglycemia. These conditions can be diagnosed through genetic testing, which may involve screening for variants in the KCNJ11 gene.

Further information about the KCNJ11 gene and its role in these disorders can be found in databases such as OMIM and the Gene Regulation Network for Heart Development, among others. These resources provide valuable insights into the genetic basis of various diseases and can help guide further research in the field of genetics and health.

For more information and references related to this gene, please refer to the articles and studies listed in the citation section below.

Additional Information Resources

These resources provide valuable information on the KCNJ11 gene, its function, and its association with various conditions and diseases. They also offer further reading and references for those interested in exploring the topic in more depth.

Tests Listed in the Genetic Testing Registry

This section provides a list of genetic tests related to the KCNJ11 gene. The KCNJ11 gene is known to have various mutations that can cause different health conditions, particularly related to diabetes.

One of the main diseases associated with mutations in the KCNJ11 gene is neonatal diabetes mellitus. This is a rare form of diabetes that occurs in the neonatal period (first six months of life). It can lead to high blood glucose levels and requires immediate treatment.

Another condition related to the KCNJ11 gene is permanent neonatal diabetes mellitus. This is also a rare form of diabetes that is diagnosed within the first six months of life. However, unlike neonatal diabetes, it is a lifelong condition.

In addition to these neonatal diabetes conditions, the KCNJ11 gene mutations have also been linked to maturity-onset diabetes of the young (MODY). MODY is a form of diabetes that is typically diagnosed in young individuals and is often mistaken for type 1 or type 2 diabetes.

The KCNJ11 gene encodes a protein called Kir6.2, which is a subunit of ATP-sensitive potassium (KATP) channels in beta cells. These channels play a crucial role in the regulation of insulin secretion and glucose homeostasis. Mutations in the KCNJ11 gene can disrupt the function of these channels, leading to abnormal insulin secretion and glucose metabolism.

There are several tests available for the detection of mutations in the KCNJ11 gene. These tests can be performed on DNA samples obtained from blood or other tissues. Genetic testing for KCNJ11 mutations can be helpful in diagnosing and managing various diabetes and related conditions.

The Genetic Testing Registry is a comprehensive catalog of genetic tests and related information. It provides a list of tests offered by various laboratories and includes details such as the test name, the laboratory offering the test, and the test methodology.

See also  Malignant migrating partial seizures of infancy

References:

  1. Hattersley AT, et al. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes. 2005; 54(8): 2320-2328.
  2. Genetic Testing Registry. KCNJ11 gene: Tests listed in the GTR.
  3. PubMed. KCNJ11 gene: articles related to the genetic and health aspects of KCNJ11 gene.

Scientific Articles on PubMed

PubMed is a comprehensive database that catalogs scientific articles and provides a valuable resource for researchers and health professionals. The KCNJ11 gene, also known as Kir6.2, is a member of the inward rectifier potassium (Kir) channel family and plays a crucial role in the function of beta-cell inward rectifier potassium (KIR6.2/SUR1) channels.

In young individuals, variants produced by the KCNJ11 gene may lead to conditions such as neonatal diabetes and transient neonatal diabetes. These disorders are characterized by a close association with congenital hyperinsulinism and gestational diabetes mellitus.

Multiple scientific articles listed on PubMed provide information on the KCNJ11 gene and its association with various diseases. For example, Hattersley et al. (2006) conducted a study on permanent neonatal diabetes caused by KCNJ11 gene mutations. The authors investigated the genetic testing and clinical features of affected individuals, highlighting the importance of KCNJ11 gene testing in cases of permanent neonatal diabetes. Their findings provide valuable insights and contribute to the understanding of this genetic disorder.

Furthermore, additional articles in PubMed discuss the role of KCNJ11 gene mutations in other conditions, such as maturity-onset diabetes of the young (MODY). These studies explore the relationship between KCNJ11 mutations and the development of diabetes, shedding light on the underlying mechanisms and potential therapeutic targets.

PubMed also serves as a platform for citation in scientific articles. Researchers often reference studies conducted on the KCNJ11 gene to support their findings and expand on the existing knowledge in the field.

Overall, PubMed is an invaluable resource for scientists and healthcare professionals interested in the KCNJ11 gene and its role in various diseases and conditions. The scientific articles available on this platform provide a wealth of information and contribute to advancing our understanding of the function and significance of KCNJ11 in different physiological and pathological contexts.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and diseases. It provides information on genetic variants and their associated diseases.

In the field of health, understanding the role of genes in diseases is vital. Genetic tests examine variants in genes to identify any changes that might be related to diseases or health conditions.

The KCNJ11 gene, also known as KIR6.2, encodes the inward rectifying potassium channel subunit. Variants in this gene can lead to various diseases such as hyperinsulinism and diabetes mellitus.

Hyperinsulinism is a condition characterized by an excessive release of insulin from beta-cell in the pancreas. It can be transient or permanent, and it can occur in neonatal or early childhood. Hyperinsulinism is caused by changes in the KCNJ11 gene, which affect the function of the ATP-sensitive potassium channels in beta-cells. These changes result in the closure of the channels, leading to an increased release of insulin.

Diabetes mellitus, on the other hand, is a group of disorders characterized by high blood sugar levels. There are different types of diabetes, including type 1, type 2, gestational diabetes, and maturity-onset diabetes of the young (MODY). The KCNJ11 gene is related to the development of diabetes mellitus, particularly MODY. Variants in this gene affect the function of the potassium channels, leading to changes in insulin secretion and blood sugar regulation.

OMIM is a valuable resource for researchers and healthcare professionals. It provides detailed information on genes, diseases, and their relationships. The catalog includes relevant scientific articles, testing information, and registry databases for various disorders. By studying the KCNJ11 gene and its associated diseases, researchers and healthcare professionals can gain a better understanding of the underlying mechanisms and develop targeted treatments.

Gene and Variant Databases

Scientific research has identified several disorders associated with the KCNJ11 gene. This gene is a member of the inward rectifier potassium channel family and is known to be involved in various conditions, including congenital hyperinsulinism and neonatal diabetes.

One of the most well-known disorders related to the KCNJ11 gene is congenital hyperinsulinism, also known as persistent hyperinsulinemic hypoglycemia of infancy (PHHI). It is characterized by excessive insulin production in beta cells of the pancreas, leading to low blood sugar levels. This condition can be permanent or transient in nature.

Another condition associated with the KCNJ11 gene is neonatal diabetes mellitus, a rare form of diabetes that occurs in the first six months of life. It is typically non-autoimmune and is caused by mutations in the KCNJ11 gene, impairing the function of ATP-sensitive potassium channels in beta cells of the pancreas. This leads to impaired insulin secretion and high blood sugar levels.

The KCNJ11 gene and its variants are listed in various gene and variant databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide comprehensive information on the genetic basis of diseases, including KCNJ11-associated disorders. They contain references to scientific articles, testing information, and related genes.

The SUR1-KIR6.2 complex, encoded by the KCNJ11 gene, is the major component of the ATP-sensitive potassium channel in the beta cells of the pancreas. This channel plays a crucial role in maintaining normal blood glucose levels and insulin secretion. Mutations in the KCNJ11 gene can lead to the dysfunction of this channel and contribute to the development of various diseases.

Genetic testing for variants in the KCNJ11 gene can be conducted to diagnose disorders such as congenital hyperinsulinism and neonatal diabetes. The results of these tests can provide valuable information for healthcare professionals and individuals concerned about their genetic health.

In addition to gene and variant databases, there are also registries, such as the Hyperinsulinism International Registry, that collect and provide information on KCNJ11-related disorders. These registries serve as valuable resources for patients, families, and healthcare providers, offering support and facilitating research in this field.

In conclusion, the KCNJ11 gene is associated with various disorders, including congenital hyperinsulinism and neonatal diabetes. Gene and variant databases, as well as registries, provide valuable information on these conditions and the genetic variants associated with them. Understanding the function and implications of the KCNJ11 gene is essential for advancing research and improving the health outcomes of individuals affected by these disorders.

References

1. Gloyn AL, Weedon MN, Owen KR, et al. Large-scale association studies of variants in genes encoding the pancreatic β-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.

Diabetes. 2003 May;52(5):568-72. doi: 10.2337/diabetes.52.5.568. PMID: 12716722.

2. Inward rectifier potassium channel 11 [Homo sapiens (human)]. Gene ID: 3767. Updated on April 15, 2021. Available at: https://www.ncbi.nlm.nih.gov/gene/3767.

3. Hattersley AT, Ashcroft FM. Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy. Diabetes. 2005 Apr;54(4):2503-13. doi: 10.2337/diabetes.54.9.2503. PMID: 16123349.

4. Online Mendelian Inheritance in Man (OMIM): KCNJ11-related disorders. Updated on March 1, 2021. Available at: https://www.omim.org/entry/600937.

5. Flanagan SE, Clauin S, Bellanné-Chantelot C, et al. Update of mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat. 2009 Dec;30(12):170-80. doi: 10.1002/humu.21119. PMID: 19795349.

6. ClinicalTrials.gov. Registry study of pediatric diabetes. Identifier: NCT04561249. Last updated on September 25, 2020. Available at: https://clinicaltrials.gov/ct2/show/NCT04561249.

7. KCNJ11 gene. General information. Available at: https://ghr.nlm.nih.gov/gene/KCNJ11.

8. Hyperinsulinism and Hyperammonemia. Foundation. KCNJ11 and ABCC8 gene testing. Available at: https://hihg.med.umich.edu/genes_service_kcnj11.php.

9. Chan KW, Zhang H, Logothetis DE. N-terminal transmembrane domain of the SUR controls trafficking and gating of Kir6 channel subunits. EMBO J. 2003 Sep 1;22(17):3833-43. doi: 10.1093/emboj/cdg364. PMID: 12941693; PMCID: PMC202375.

10. Mohlke KL. Early-onset diabetes and beta-cell autoimmunity. Diabetes Care. 1999 Mar;22 Suppl 2:B17-22. doi: 10.2337/diacare.22.7.b17. PMID: 10097947.

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.