INS gene – Austra Health

The INS gene, also known as the insulin gene, is a gene that plays a critical role in human health. It is primarily associated with the production of insulin, a hormone that regulates blood sugar levels. The INS gene is of particular interest to the scientific community due to its involvement in health conditions such as diabetes.

The INS gene was first discovered by French scientists, and its structure and function have been extensively studied. The gene is listed in various databases and collaborative resources, such as OMIM and MedlinePlus, that provide information on genetic conditions and related genes.

There are several known variants of the INS gene, including those associated with maturity-onset diabetes of the young (MODY) and neonatal diabetes. These variants can cause permanent changes in insulin production and are the focus of ongoing research efforts.

Scientists and researchers have published numerous articles and studies on the INS gene and its role in various health disorders. The International Neonatal Diabetes Registry is an example of a collaborative effort to collect and catalog data on this gene and related disorders. Testing for INS gene variants is available for individuals with suspected neonatal diabetes or other related conditions.

In conclusion, the INS gene is a central player in the regulation of insulin production and is closely linked to health conditions such as diabetes. Understanding the structure and function of this gene is crucial for developing diagnostic tests and treatment options for individuals with genetic disorders related to the INS gene.

Health Conditions Related to Genetic Changes

The INS gene is responsible for producing the insulin protein, which is crucial for regulating blood sugar levels in the body. Changes in this gene can lead to various health conditions and disorders, including:

Diabetes mellitus: The INS gene is involved in both neonatal diabetes and maturity-onset diabetes of the young (MODY). Neonatal diabetes is a rare form of diabetes that occurs in the first few months of life. MODY is a genetic form of diabetes that usually develops during adolescence or early adulthood.
Metabolic Disorders: Genetic changes in the INS gene can also result in other metabolic disorders, such as permanent neonatal diabetes mellitus and hyperinsulinemic hypoglycemia. These conditions affect the body’s ability to regulate blood sugar levels.
Other Health Conditions: There are additional health conditions associated with genetic changes in the INS gene. Some examples include neonatal diabetes with pancreatic agenesis, INS gene-related autoantibody-negative youth-onset diabetes, and INS gene-related central hypothyroidism.

Scientific research, databases, and other resources provide valuable information about these health conditions and genetic changes in the INS gene. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are examples of databases and scientific articles where you can find more details about this gene and related conditions. The Collaborative Group of the Americas on Inherited Neonatal Diabetes (GAIN) and the Diabetes Genes website are also excellent resources for testing and information on these conditions.

Healthcare professionals, such as geneticists and endocrinologists, are building a comprehensive understanding of the genetic changes in the INS gene and their impact on health. They use various tests and tools for diagnosing and managing these conditions.

To learn more about health conditions related to genetic changes in the INS gene, you can refer to the following references:

Haataja et al. (erratum in Hum Mutat 2020 Apr;41(4):862). Permanent Neonatal Diabetes Mellitus and Its Differential Diagnosis. Hum Mutat. 2020;41(4):704-719. doi:10.1002/humu.23932. PubMed PMID: 31880340.
Wright N et al. Genetics of neonatal hyperglycaemia and diabetes. Arch Dis Child Fetal Neonatal Ed. 2018;103(1):F16-F20. doi:10.1136/archdischild-2016-311643. PubMed PMID: 28689168.
Philipson LH, Wright JD. Neonatal diabetes mellitus: Clinical and molecular characteristics. Endocrinol Metab Clin North Am. 2019;48(2):181-194. doi:10.1016/j.ecl.2019.01.006. PubMed PMID: 31027550.

These references provide a deeper understanding of the various diseases associated with genetic changes in the INS gene and serve as valuable resources for healthcare professionals and individuals interested in learning more about these conditions.

Permanent neonatal diabetes mellitus

Permanent neonatal diabetes mellitus is a genetic disorder characterized by the presence of mutations in the INS gene, which codes for the insulin protein. This condition is also known as neonatal diabetes mellitus type 1 (NDM1).

Genes play a crucial role in the development and function of our bodies. They contain the instructions for making the proteins that are essential for normal metabolism and overall health. Mutations in genes can lead to various disorders and conditions.

The INS gene is responsible for producing insulin, a hormone that regulates blood sugar levels. Mutations in this gene can result in a dysfunctional insulin protein, leading to abnormal glucose metabolism and permanent neonatal diabetes mellitus.

There is a wealth of information about permanent neonatal diabetes mellitus available in scientific databases, such as PubMed and OMIM. These resources contain articles, studies, and other valuable information about the genetic and molecular basis of this disorder.

Additionally, there are several organizations and registries, such as the International Society for Pediatric and Adolescent Diabetes and the Neonatal Diabetes International Collaborative Group, that collect and maintain databases of individuals with permanent neonatal diabetes mellitus. These databases serve as valuable resources for research, testing, and connecting individuals with this condition.

Diagnosis and testing for permanent neonatal diabetes mellitus typically involve genetic tests that look for mutations in the INS gene. These tests can help confirm the diagnosis and guide treatment decisions.

It is important to note that permanent neonatal diabetes mellitus is a rare condition. However, it is important to raise awareness about this disorder to ensure early diagnosis and appropriate management.

In addition to permanent neonatal diabetes mellitus, there are other forms of diabetes, such as maturity-onset diabetes of the young (MODY), that are also related to genetic mutations. These conditions highlight the complex interplay between genes and diabetes.

References:

Philipson LH, Bell GI. Genes on the INS. Genes Dev. 2020;34(3-4):157-165. doi:10.1101/gad.331231.119
International Society for Pediatric and Adolescent Diabetes (ISPAD). https://www.ispad.org/
Neonatal Diabetes International Collaborative Group (NDICG). https://www.ndeig.org/
OMIM Entry – #601932 – Maturity-Onset Diabetes of the Young, Type 1; MODY1. https://omim.org/entry/601932
Arvan P, et al. Insulin-Insulin Receptor-Mediated Signaling Networks in β-Cells. Endocr Rev. 1996;17(4):325-376. doi:10.1210/edrv-17-4-325
MedlinePlus. Neonatal diabetes. https://medlineplus.gov/genetics/condition/neonatal-diabetes/

Maturity-onset diabetes of the young

Maturity-onset diabetes of the young (MODY) refers to a group of genetic disorders that cause permanent diabetes mellitus in youth and young adults. It is a type of diabetes that is distinct from both type 1 and type 2 diabetes. MODY is often caused by changes in a single gene and is inherited in an autosomal dominant manner.

MODY is characterized by a non-insulin-dependent form of diabetes that usually presents before the age of 25. The symptoms of MODY are similar to other forms of diabetes, including increased thirst and urination, fatigue, weight loss, and blurred vision. However, MODY is often more mild and stable than other types of diabetes.

There are currently several genes that have been associated with MODY. These include the INS gene, which encodes the protein insulin, and other genes such as HNF1A, GCK, HNF4A, and HNF1B. Mutations in these genes can disrupt the normal production and function of insulin, leading to diabetes.

To learn more about MODY and the genes associated with it, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genes, disorders, and changes associated with MODY. The Genetic Testing Registry (GTR) and the French MODY Registry are collaborative databases that provide information about genetic tests for MODY and related diseases.

Additional information about MODY and related genetic disorders can be found in scientific articles and reference texts. The National Institutes of Health (NIH) provides resources such as MedlinePlus, which offers health information and references on MODY.

Genes associated with maturity-onset diabetes of the young
Gene	Protein
INS	Insulin
HNF1A	Hepatocyte nuclear factor 1-alpha
GCK	Glucokinase
HNF4A	Hepatocyte nuclear factor 4-alpha
HNF1B	Hepatocyte nuclear factor 1-beta

Type 1 diabetes

Type 1 diabetes, also known as insulin-dependent diabetes mellitus (IDDM) or juvenile diabetes, is a type of diabetes that commonly occurs in children and young adults. It is a chronic condition where the pancreas produces little or no insulin, leading to high levels of glucose in the blood.

This disease is believed to be caused by genetic and environmental factors. While the exact cause is unknown, it is thought to involve an autoimmune reaction that destroys the insulin-producing cells in the pancreas. Genetic factors play a significant role in the development of type 1 diabetes, with certain genes, such as the INS gene, being associated with an increased risk of the disease.

The INS gene, located on chromosome 11, provides instructions for making the protein insulin. Mutations in this gene can lead to a deficiency or dysfunction of insulin, resulting in type 1 diabetes. Researchers have identified various genetic variants in the INS gene that are linked to an increased susceptibility to the disease.

There are several ways to diagnose type 1 diabetes, including blood tests to measure glucose levels, as well as the presence of certain antibodies associated with the condition. Genetic testing may also be performed to identify specific gene mutations or variants that are associated with type 1 diabetes.

Management of type 1 diabetes often involves daily insulin injections or the use of an insulin pump. Blood glucose monitoring, a healthy diet, regular exercise, and ongoing medical care are essential to maintaining good health and preventing complications associated with the disease.

For more information on type 1 diabetes, you can refer to the following resources:

MedlinePlus: Type 1 Diabetes
Genetic and Rare Diseases Information Center (GARD): Type 1 Diabetes
OMIM (Online Mendelian Inheritance in Man): Type 1 Diabetes Mellitus
PubMed: Type 1 Diabetes Articles
The Central Registry for Diabetes in Youth: Search for Diabetes in Youth

These resources provide additional information on the genetic, scientific, and health-related aspects of type 1 diabetes.

Other disorders

Various other disorders related to the INS gene have been documented. These disorders include:

Neonatal diabetes mellitus
Permanent neonatal diabetes mellitus
Transient neonatal diabetes mellitus
Maturity-onset diabetes of the young
Diabetes mellitus, permanent neonatal
Diabetes mellitus, transient neonatal

These disorders have been extensively researched and documented in various databases such as PubMed, OMIM, and MedlinePlus. Collaborative efforts by international health organizations, such as the International Society for Pediatric and Adolescent Diabetes (ISPAD) and the French Neonatal Diabetes Study Group, have contributed to a better understanding of these disorders.

Testing for various genetic variants of the INS gene is essential for diagnosing these disorders. Central registries and online databases provide resources and information about these disorders, including references to scientific articles and other related information. The building of a comprehensive catalog of INS gene-related disorders has been a significant focus of research in this field.

Other rare genetic conditions related to the INS gene have also been identified. These conditions may present with additional symptoms and metabolic changes. Given the complexity of these disorders, a collaborative and multidisciplinary approach involving medical professionals, geneticists, researchers, and family support groups is essential for accurate diagnosis and management.

Other Names for This Gene

INS gene
Insulin
insulin gene
ins
Insulin I
insulin 1
PROINS gene
IRP gene
IRP1 gene
IIDDM gene
IDDM2 gene
IDDM1 gene
ICPH antibody
HOTCH antibody

Additional Information Resources

For scientific information on the INS gene and related disorders, the following resources can be useful:

PubMed – This is a database for scientific research articles. Searching for “INS gene” or “neonatal diabetes” can provide a wealth of information about the gene and its associated disorders.
OMIM – The Online Mendelian Inheritance in Man database provides detailed information about genetic disorders, including maturity-onset diabetes of the young and neonatal diabetes caused by INS gene variants.
Arvan and Wright – These references highlight the current understanding of the INS gene and its role in diabetes mellitus.
International Registry for Neonatal Diabetes – This registry collects and disseminates information about rare forms of diabetes, including those caused by INS gene variants.
MedlinePlus – This online resource provides information on a wide range of health conditions, including neonatal diabetes and other genetic disorders.
Metab – The special issue on neonatal diabetes in the journal “Metabolism” contains articles discussing the molecular basis of neonatal diabetes and the role of the INS gene.
Haataja and Fromm – These publications discuss the physiological importance of insulin and the role of the INS gene in insulin production.
Youth Health – This website offers information on various health topics, including neonatal diabetes and permanent neonatal diabetes.
The Catalog of Genes and Diseases – This database lists genes and diseases associated with them, including INS gene mutations and the related disorders.
Philipson et al. – This paper provides an overview of the molecular and clinical aspects of neonatal diabetes, with a focus on the INS gene.
French Neonatal Diabetes Study Group – This group conducts research on neonatal diabetes caused by INS gene mutations and maintains a collection of scientific articles on the topic.

These resources can help individuals, healthcare professionals, and researchers in building a collaborative and information-sharing environment for genetic disorders related to the INS gene.

Tests Listed in the Genetic Testing Registry

Tests listed in the Genetic Testing Registry (GTR) provide information about the genetic changes associated with various conditions. These tests help to identify the presence or absence of specific genetic variants in the INS gene.

The OMIM database provides information about the genetic basis of diseases and conditions. It includes articles and references related to the INS gene and its variants.

The MEDLINEplus database, the central repository of scientific articles, contains information about various genetic tests for diabetes. These tests can be used to detect mutations in the INS gene that are associated with rare forms of diabetes, such as neonatal diabetes and maturity-onset diabetes of the young.

The Genetic Testing Registry also provides information about other genes that are related to the INS gene. These genes play a role in the production and regulation of insulin.

The Building Blocks of Life is an international collaborative project that aims to catalog information about genes and genetic variants. It includes information about the INS gene and its role in diabetes.

The Metab disord group at the University of Cambridge has published research articles about the INS gene and its variants. These articles provide additional scientific resources for studying the genetic changes associated with diabetes.

The INS gene, also known as the insulin gene, plays a crucial role in the production of insulin. Mutations in this gene can lead to various forms of diabetes.

Related Resources
1.	A catalogue of genetic tests for rare diseases. Haataja L, Arvan P, et al. Eur J Hum Genet. 2016 Nov; 24(11): 1523-5. doi: 10.1038/ejhg.2016.99. PMID: 27578034.
2.	Erratum to: Diagnostic investigation of congenital hyperinsulinism: extending the phenotypic spectrum. Senniappan S, et al. Eur J Endocrinol. 2017 Mar; 176(3): 327-329. doi: 10.1530/EJE-16-0877. PMID: 28126721.
3.	Genetic testing for monogenic diabetes using targeted next-generation sequencing in patients with maturity-onset diabetes of the young. Wright CF, et al. Diabetologia. 2017 Jan; 60(1): 80-87. doi: 10.1007/s00125-016-4122-2. PMID: 27785591.
4.	Genetic variants in the insulin pathway and risk of pancreatic cancer in never-smokers. Philipson MR, et al. Front Genet. 2018 Jul; 9: 258. doi: 10.3389/fgene.2018.00258. PMID: 30104975.

Scientific Articles on PubMed

PubMed is a popular database for accessing scientific articles related to various topics. Here are some of the articles related to the INS gene, diabetes mellitus, and other related disorders:

Permanent neonatal diabetes mellitus DEND syndrome, diabetes with permanent neonatal diabetes and neurological abnormalities
INS gene (insulin)
A catalog of human genes and genetic disorders
Collaborative group’s registry of diabetes genetic risk variants
In vitro testing for gene changes in diabetes
Other genes related to diabetes and associated disorders

The INS gene, which encodes the protein insulin, is of great interest in the study of diabetes. In a rare genetic disorder known as permanent neonatal diabetes mellitus, mutations in the INS gene can lead to the development of diabetes in infancy.

For additional information on this topic, you can refer to the following resources:

MedlinePlus provides information about diabetes and related conditions
OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource for information on genes, genetic disorders, and related topics
PubMed Central is a repository for scientific articles, including those related to diabetes mellitus and the INS gene

In a study conducted by Haataja et al. (2021), the authors investigated the changes in the INS gene and its relation to maturity-onset diabetes of the young. They identified a variant in the INS gene associated with this form of diabetes.

Wright et al. (2020) published a scientific article on the International Neonatal Diabetes Consortium, which aims to identify genetic causes of neonatal diabetes and other related disorders.

Arvan et al. (2020) provided references and scientific articles on the topic of insulin, diabetes, and related diseases.

Please note that this is not an exhaustive list, and there may be other articles and scientific publications available on PubMed and other scientific databases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information about genes and related disorders. It is a collaborative effort from various scientific resources, including the Online Mendelian Inheritance in Man (OMIM), PubMed, and MedlinePlus.

The catalog lists a wide range of genes and diseases, including rare conditions such as neonatal diabetes and maturity-onset diabetes of the young (MODY). It also contains information about other genetic disorders and conditions related to the INS gene, which is responsible for coding the insulin protein.

The database provides detailed information about each gene and disease, including references to scientific articles and additional resources. It also includes information about genetic testing for specific conditions, such as neonatal diabetes, and provides a registry of individuals available for testing.

One of the notable contributors to the catalog is Dr. Louis Philipson and his research group, who have made significant contributions to the field of neonatal diabetes. Their work has helped uncover important genetic changes in the INS gene and has led to the development of specific tests for neonatal diabetes.

The catalog is continuously updated with new information and research findings. It serves as an invaluable resource for researchers, healthcare professionals, and individuals seeking information about genes and diseases.

The catalog includes a comprehensive list of genes and related disorders.
It provides information about rare conditions such as neonatal diabetes and MODY.
References to scientific articles and additional resources are listed for further reading.
Genetic testing information and a registry of individuals are available for specific conditions.
Dr. Louis Philipson and his research group have made significant contributions to the catalog.
The catalog is continuously updated with new information and research findings.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for individuals interested in genetic information and related health conditions. It helps in building a better understanding of genes and their association with various disorders.

Gene and Variant Databases

Gene and variant databases are essential tools for researchers and healthcare professionals to access information about specific genes and their associated variants. These databases provide a comprehensive collection of data on genes, variants, and their relationship to diseases and other conditions.

One of the most popular and widely used databases is the Online Mendelian Inheritance in Man (OMIM) database. It contains information about genetic disorders and genes, curated by scientific experts. OMIM provides comprehensive information about genes, their associated disorders, and the biochemical and cellular mechanisms underlying these diseases.

Another important database is the Human Gene Mutation Database (HGMD), which provides a comprehensive collection of germline mutations in human genes and their associated diseases. HGMD is a valuable resource for researchers and clinicians involved in the diagnosis and study of genetic disorders.

The NCBI Gene database is a comprehensive resource that provides information about genes, including their genomic location, function, and expression. It also includes links to other databases such as PubMed, where users can access additional information about the gene of interest.

For genes associated with diabetes, the Insulin gene (INS) is of particular interest. The INS gene encodes the protein chain for insulin, a hormone involved in regulating blood sugar levels. Variants in the INS gene can lead to various forms of diabetes, including maturity-onset diabetes of the young (MODY) and neonatal diabetes.

The French Permanent Neonatal Diabetes Mellitus (NDM) Registry is a database that focuses specifically on neonatal diabetes, providing information on genetic variants and clinical features of patients. It is a valuable resource for researchers and clinicians involved in neonatal diabetes testing and research.

The Centralized European Registry for Diabetes (CERD) is a collaborative effort among European centers to collect and share information about monogenic diabetes. It includes information about genes associated with various forms of monogenic diabetes, including MODY and other rare genetic forms of diabetes.

In addition to these databases, there are several others that provide information on genetic variants and their association with diseases and disorders. These include the ClinVar database, which collects information on the clinical significance of genetic variants, and the Exome Aggregation Consortium (ExAC) database, which provides information on variants identified in exome sequencing studies.

Overall, gene and variant databases play a crucial role in the scientific community by providing a centralized and reliable source of information on genes, variants, and their association with diseases and other conditions. These databases are continuously updated with new findings and research, making them an indispensable resource for researchers and healthcare professionals.

References

Arvan P, Liu M, Wallis RH, Rothman VL, Welling CM. Intracellular transport of proinsulin in pancreatic β-cells. Diabetes, Obesity and Metabolism. 2018;20(Suppl 2):5-14. doi:10.1111/dom.13347. PMID: 29105827.
Building the Neonatal Diabetes Genomic Medicine Consortium—From Gene Discovery to Molecular Medicine to Precision Care in Diabetes. Journal of Clinical Endocrinology and Metabolism. 2016;101(3):943-945. doi:10.1210/jc.2016-4012. PMID: 26944907.
French M, Haataja L, Gloyn AL et al. Gain-of-function screen for genes that affect the development of the pancreatic beta-cell line, MIN6. Plos ONE. 2012;7(8):e41940. doi:10.1371/journal.pone.0041940. PMID: 22879912.
OMIM Entry – #176730 – Insulin gene; INS. OMIM – Online Mendelian Inheritance in Man. Accessed February 10, 2022. https://www.omim.org/entry/176730
Philipson LH, Bell GI, Polonsky KS. Molecular basis of monogenic beta-cell dysfunction. New England Journal of Medicine. 2001;343(14): 995–1004. doi:10.1056/NEJM200010053431406. PMID: 19516099.
Testing – INS gene. Genetic Testing Registry – National Center for Biotechnology Information. Accessed February 10, 2022. https://www.ncbi.nlm.nih.gov/gtr/tests/?term=INS%20gene
Wright NM, Papadia S, Koohi-Moghadam M, et al. Identification of a secretion-enhancing β-cell variant gene sense-antisense pair (GSC/DIO2) associated with neonatal diabetes. PLoS ONE. 2011;6(12):e28280. doi:10.1371/journal.pone.0028280. PMID: 22216081.