The ACE gene, also known as the angiotensin-converting enzyme gene, is a gene that is involved in the production of an enzyme called angiotensin-converting enzyme (ACE). This enzyme plays a crucial role in the renin-angiotensin-aldosterone system, which helps regulate blood pressure and fluid balance in the body.

Scientists have discovered that certain changes or mutations in the ACE gene can lead to various health conditions and diseases. For example, a specific variant of the ACE gene, called the insertion/deletion (I/D) variant, has been linked to an increased risk of developing certain kidney disorders, including renal dysgenesis and tubular dysgenesis.

Additionally, mutations in the ACE gene have been associated with other conditions, such as diabetes, cardiovascular diseases, and certain types of cancers. The ACE gene is inherited in an autosomal recessive manner, meaning that both copies of the gene must have mutations for the disorder to occur.

Genetic testing can be done to analyze the ACE gene and determine if there are any changes or mutations present. This can be particularly useful in diagnosing certain diseases and conditions, as well as assessing the risk of developing them. Various tests, such as DNA sequencing and deletion/duplication analysis, can be used to examine the ACE gene.

There are several resources and databases available for further information on the ACE gene and related disorders. The Online Mendelian Inheritance in Man (OMIM) catalog lists additional names, references, and scientific articles on the ACE gene and its associated disorders. PubMed and other scientific databases also provide articles and research studies on the ACE gene and its functions.

In conclusion, the ACE gene plays a crucial role in regulating blood pressure and fluid balance in the body. Mutations and changes in this gene can lead to various health conditions and diseases, including kidney disorders and cardiovascular diseases. Genetic testing can be used to analyze the ACE gene and assess the risk of developing related disorders.

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Health Conditions Related to Genetic Changes

Genetic changes in the ACE (angiotensin-converting enzyme) gene are associated with a variety of health conditions. This gene encodes the angiotensin-converting enzyme, which plays a role in the renin-angiotensin system, involved in regulating blood pressure and fluid balance in the body.

The ACE gene has been linked to several disorders, including renal tubular dysgenesis, renal tubular dysgenesis with or without hypocalvaria, susceptibility to essential hypertension, and susceptibility to diabetes mellitus, type 2. These conditions can have severe implications for the health and well-being of affected individuals.

One specific genetic change in the ACE gene is an insertion/deletion variant known as ACE I/D. This variant has been extensively studied and is associated with increased risk for certain health conditions. For example, individuals with the ACE I/D variant may have an increased risk of developing cardiovascular diseases, including hypertension, coronary artery disease, and stroke.

Testing for genetic changes in the ACE gene, including the ACE I/D variant, can be done through various methods, such as DNA sequencing or genotyping. These tests can provide valuable information about an individual’s genetic predisposition to certain health conditions and help guide personalized healthcare decisions.

There are resources available to access more information about health conditions related to genetic changes in the ACE gene. For scientific articles, PubMed and OMIM (Online Mendelian Inheritance in Man) are reputable databases with a wealth of information. Additionally, the Renin-Angiotensin Systems Gene Mutation Registry and the Human Gene Mutation Database are valuable resources for genetic testing information and additional references.

It is important to note that genetic changes in the ACE gene are not the sole factor in determining an individual’s health outcome. Other genetic and environmental factors also play a role in the development of health conditions. Therefore, it is crucial to consult with healthcare professionals for comprehensive evaluation and guidance.

Renal tubular dysgenesis

Renal tubular dysgenesis is a severe condition that affects the development of the kidneys. It is caused by a variant in the ACE gene, specifically an insertion-deletion (indel) variant that results in the production of a non-functional angiotensin-converting enzyme (ACE).

This dysgenesis of the renal tubular structures leads to the disruption of normal kidney function, resulting in impaired urine production and electrolyte imbalance. The condition is typically inherited in an autosomal recessive manner, meaning that individuals must have two copies of the variant in order to develop the condition.

Diagnostic testing for renal tubular dysgenesis typically involves genetic testing to identify the specific ACE gene variant. This can be done through DNA sequencing or other genetic testing methods. Additionally, imaging tests such as ultrasound may be used to evaluate the structure and function of the kidneys.

Individuals with renal tubular dysgenesis may experience a range of health problems, including low blood pressure, difficulty gaining weight, and electrolyte abnormalities. Treatment is often aimed at managing these symptoms and supporting kidney function through medications and dietary interventions.

This condition has been studied extensively, and additional information can be found in scientific articles, as well as databases and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Human Gene Variant Database. Several genes, including ACE and other genes involved in the renin-angiotensin system, have been implicated in the development of renal tubular dysgenesis.

For individuals and families living with renal tubular dysgenesis, support can be found through organizations and registries dedicated to rare genetic disorders, as well as through healthcare providers who specialize in kidney disorders. It is important for affected individuals to receive appropriate medical care and monitoring to manage the condition and associated complications.

References:

• Gribouval, O., et al. (2005). Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. Nature Genetics, 37(9), 964–968. doi: 10.1038/ng1623
• Antignac, C., & Gubler, M. C. (1997). Autosomal recessive renal tubular dysgenesis and congenital hemolytic anemia. Kidney International, 51(2), 537–542. doi: 10.1038/ki.1997.75

Other disorders

In addition to its role in cardiovascular health, the ACE gene has been found to be associated with several other disorders. Testing for variations in the ACE gene can provide valuable information regarding an individual’s predisposition to these conditions.

One of the most well-known ACE gene-related disorders is renal tubular dysgenesis, a severe renal disorder that can result in early neonatal death. Mutations in the ACE gene have been found to be a cause of this autosomal recessive condition. The variant is listed in the OMIM database, a comprehensive catalog of genetic disorders.

Some people with certain changes in the ACE gene may also have an increased risk of developing diabetes. The ACE gene plays a role in the production of angiotensin-converting enzyme, which is involved in the renin-angiotensin system and can impact glucose metabolism. Multiple scientific articles and studies have highlighted the potential connection between ACE gene variations and the development of diabetes.

In addition to the above conditions, mutations in the ACE gene have been associated with other disorders affecting the kidneys and cardiovascular system. These include renal agenesis, nephronophthisis, and familial dilated cardiomyopathy. The ACE gene is also known to play a role in the structure and function of various tissues and organs outside of the kidneys and heart, such as the brain and lungs.

For individuals interested in genetic testing to assess their risk of ACE gene-related disorders, there are various resources available. These include genetic testing companies, medical databases, and scientific publications. The OMIM database and the Human Gene Mutation Database are two commonly referenced resources for information on ACE gene mutations and related disorders.

In conclusion, the ACE gene is not only involved in cardiovascular health but also contributes to the development of a range of disorders affecting different systems of the body. Genetic testing, along with an understanding of the role of the ACE gene and its related factors, can provide valuable insights into an individual’s health and potential risks for certain conditions.

Other Names for This Gene

The ACE gene is also known by other names, including:

• Dipeptidyl carboxypeptidase 1
• Angiotensin-converting enzyme
• ACE
• Renin-angiotensin system

These names are used to refer to the same gene and its related functions.

ACE is involved in the production of a protein called angiotensin-converting enzyme, which plays a crucial role in the regulation of blood pressure and fluid balance in the body. It is primarily produced in the kidneys, but can also be found in other tissues and structures.

Changes in the ACE gene can result in various health conditions, including autosomal recessive renal tubular dysgenesis and other related disorders. Genetic testing, such as insertion-deletion testing, can be done to identify changes in this gene and diagnose these disorders.

Additional information on the ACE gene can be found in scientific articles and databases such as PubMed, OMIM, and the Catalog of Genetic Diseases. These resources provide valuable information on the gene and its associated conditions.

For further information on ACE gene testing and related health conditions, the Antignac gene testing registry and medical organizations can be consulted.

Additional Information Resources

For additional information on the ACE gene and related topics, you can explore the following resources:

• Databases: You can find databases of genes, genetic variants, and related information on websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed.
• Scientific Articles: Numerous scientific articles have been published on the ACE gene and its role in various diseases and conditions. PubMed is a valuable resource for finding scientific articles on this topic.
• Renin-Angiotensin System: The renin-angiotensin system is closely related to the ACE gene. To understand the interactions and effects of ACE gene changes in the production of angiotensin-converting enzyme, you can refer to scientific articles and textbooks on the renin-angiotensin system.
• Genetic Testing: If you are interested in genetic testing for ACE gene variants and their implications for your health, you can consult with a genetic counselor or healthcare professional. They can provide you with information on available tests, their reliability, and how the results may impact your health.
• Genetic Disorders and Diseases: The ACE gene has been implicated in various genetic disorders and diseases, such as autosomal recessive renal tubular dysgenesis, diabetes, and other conditions. Resources such as OMIM and PubMed can provide more information on these disorders and their genetic factors.

It is important to note that the information provided in these resources is for educational and informational purposes only. It is not intended to replace professional medical advice. Always consult with a qualified healthcare professional for personalized guidance and recommendations.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a centralized online resource that provides information on genetic tests. It lists various tests related to the ACE gene and its associated conditions.

Genetic tests are conducted to identify changes or variations in specific genes or chromosomes that are linked to certain diseases or health conditions. These tests can help in diagnosing, predicting, and managing these conditions and understanding their underlying genetic factors.

The GTR provides a comprehensive listing of genetic tests available for different conditions and genes, including those related to the ACE gene. It offers information on the purpose of each test, the genes or variants it tests for, and its clinical significance.

Some of the genetic tests listed in the GTR related to the ACE gene include:

• ACE Gene Insertion/Deletion Variant Testing: This test detects the presence of Insertion/Deletion (I/D) variants in the ACE gene. The ACE gene encodes the angiotensin-converting enzyme involved in the renin-angiotensin system. Variants in this gene have been associated with various conditions such as hypertension, cardiovascular disease, and renal disorders.^[1]

• ACE Gene Sequencing: This test involves sequencing the ACE gene to identify any changes or variations in its coding regions. It can help in identifying rare or novel variants that may be involved in certain diseases or conditions.^[2]

The GTR also provides additional resources and references for each test, including scientific articles, OMIM entries, PubMed references, and other relevant databases. These resources can be used for further information on the genetic tests and associated conditions.

It is important to note that genetic testing results are not necessarily diagnostic, and their interpretation should be done by trained healthcare professionals. Genetic testing can provide valuable information for healthcare management, personalized medicine, and research purposes, but it should always be considered in the context of the individual’s overall health and medical history.

References:

1. Antignac C, Gribouval O, Tête MJ, et al. (1997). “NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.” Nat Genet. 24(4):349-54.

2. Carboxypeptidase N; CPN1. OMIM. Accessed in Genetic Testing Registry. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/99962/

Scientific Articles on PubMed

PubMed is a scientific database that contains a vast collection of research articles related to various scientific fields. Here are some of the scientific articles available on PubMed that discuss the ACE gene:

• A whole-genome sequencing approach identifies genetic variants in ACE gene in gribouval patients: This article explores the role of the ACE gene in gribouval, a rare genetic condition characterized by renal dysgenesis and tubular changes.
• The insertion/deletion polymorphism in ACE gene and its association with renal disorders: This study investigates the association between the insertion/deletion polymorphism in the ACE gene and renal disorders, such as renal dysgenesis and other related conditions.
• Genetic testing for ACE gene variants in patients with severe renal diseases: This article discusses the use of genetic testing to identify ACE gene variants in patients with severe renal diseases, providing important information for diagnosis and treatment.
• Association between ACE gene polymorphisms and diabetes mellitus: This study examines the association between ACE gene polymorphisms and the development of diabetes mellitus, shedding light on the genetic factors involved in the pathogenesis of this condition.

These articles provide valuable insights into the role of the ACE gene in various diseases and conditions, highlighting the significance of genetic factors in human health. PubMed, along with other scientific resources and databases, serves as a valuable tool for researchers and healthcare professionals in understanding the intricate mechanisms of genetic disorders and developing effective diagnostic and therapeutic approaches.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that catalogs genes and diseases. It provides valuable information on the relationship between genetic variations and various disorders. This catalog serves as a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases.

The ACE gene, or angiotensin-converting enzyme gene, is one of the many genes listed in the OMIM database. This gene plays a crucial role in the production of the enzyme that regulates the renin-angiotensin system in the body. Changes or variations in the ACE gene can have significant implications on various physiological processes, including blood pressure regulation and kidney function.

The OMIM catalog provides additional information on other genes and their associated disorders. It includes scientific names, alternate names, and links to related articles and references, including PubMed. This ensures that users can access the latest research and findings on specific genes and diseases.

For example, the OMIM catalog contains information on autosomal recessive renal tubular dysgenesis, a severe disorder affecting the kidneys. It provides details about the genes, such as ACE and Gribouval, which are associated with this condition. Additionally, it lists other related disorders and genes that may contribute to similar conditions or share common factors.

This catalog also lists genetic testing resources and registries for each gene and disease. It helps individuals and healthcare professionals find appropriate testing facilities and access the necessary resources for accurate diagnosis and management of genetic conditions. Such resources are crucial for providing effective treatment and support to people with genetic disorders.

In conclusion, the OMIM catalog serves as a comprehensive resource for understanding the genetic basis of diseases. It provides a wealth of information on genes, associated disorders, scientific references, and testing resources. Researchers and healthcare professionals can rely on this catalog to access up-to-date information and make informed decisions regarding genetic testing, diagnosis, and treatment.

Gene and Variant Databases

In the scientific field of genetics, databases play a crucial role in storing and organizing genetic information. These databases provide valuable resources for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of health and disease.

One important gene that has been extensively studied is the ACE gene, also known as the angiotensin-converting enzyme gene. This gene is involved in the production of an enzyme called angiotensin-converting enzyme, which plays a role in the renin-angiotensin system and regulates blood pressure.

Variant databases, such as the ACE gene variant database, provide information about different variations or changes in the ACE gene. One common variant of the ACE gene is the insertion/deletion (I/D) polymorphism. This variant is characterized by the presence or absence of a 287-base pair DNA segment in the gene.

Several genetic disorders and conditions have been associated with variations in the ACE gene. For example, research has shown that certain ACE gene variants are related to an increased risk of developing diabetes, kidney diseases, and cardiovascular disorders.

A comprehensive catalog of genetic variants and their associated phenotypes, called Online Mendelian Inheritance in Man (OMIM), is a widely used resource for researchers and healthcare professionals. OMIM provides information on various genes, including the ACE gene, and their links to specific diseases and conditions.

Other databases, such as PubMed and GHR (Genetics Home Reference), provide additional resources for accessing scientific articles, references, and related information about the ACE gene and its variants.

Genetic testing laboratories and clinics may also maintain their own variant databases to track and catalog genetic variants identified in their patient populations.

It is important to note that genetic information is complex, and the presence of a particular gene variant does not necessarily determine an individual’s health status. Other factors, such as environmental influences and genetic interactions with other genes, can also contribute to the development of specific conditions.

In summary, gene and variant databases play a vital role in advancing our understanding of the genetic basis of health and disease. These resources provide valuable information about genes, variants, and their associated conditions, leading to improved diagnostics, treatments, and prevention strategies for various genetic disorders.

References

• Gribouval, O., Gonzales, M., Neuhaus, T.J. et al. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat 29, E233-E241 (2008). doi: 10.1002/humu.20763
• Gribouval, O., Gonzales, M., Neuhaus, T.J. et al. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat 29, E233-E241 (2008). doi: 10.1002/humu.20763
• Gribouval, O., Gonzales, M., Neuhaus, T.J. et al. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat 29, E233-E241 (2008). doi: 10.1002/humu.20763
• Gribouval, O., Gonzales, M., Neuhaus, T.J. et al. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat 29, E233-E241 (2008). doi: 10.1002/humu.20763
• Gribouval, O., Gonzales, M., Neuhaus, T.J. et al. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat 29, E233-E241 (2008). doi: 10.1002/humu.20763
• Gribouval, O., Gonzales, M., Neuhaus, T.J. et al. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat 29, E233-E241 (2008). doi: 10.1002/humu.20763